Full data view for gene MC1R

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002386.3 transcript reference sequence.

147 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-13C>T r.(?) p.(=) Unknown - likely benign g.89985654C>T g.89919246C>T MC1R(NM_002386.4):c.-13C>T - MC1R_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67C>T r.(?) p.(Gln23Ter) Unknown - VUS g.89985733C>T g.89919325C>T MC1R(NM_002386.4):c.67C>T (p.Q23*) - MC1R_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.86dup r.(?) p.(Asn29Lysfs*14) Paternal (confirmed) - pathogenic g.89985752dup g.89919344dup 86_87insA - MC1R_000004 - PubMed: Beaumont 2008, Journal: Beaumont 2008 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 18484624-FamD PubMed: Beaumont 2008, Journal: Beaumont 2008 - F - Australia - - - - - 3 Jamie Zeegers
+/. 1 c.86dup r.(?) p.(Asn29Lysfs*14) Parent #1 - pathogenic g.89985752dup g.89919344dup 86_87insA - MC1R_000004 - PubMed: Beaumont 2008, Journal: Beaumont 2008 - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control 18484624-FamFather PubMed: Beaumont 2008, Journal: Beaumont 2008 - M - Australia - - - - - 1 Jamie Zeegers
+/+ 1 c.86dup r.(?) p.(Asn29Lysfs*14) Paternal (inferred) - pathogenic g.89985752dup g.89919344dup 86insA - MC1R_000004 probable non-paternity for this allele PubMed: Flanagan 2000 - - Germline - 1/13 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.86dup r.(?) p.(Asn29Lysfs*14) Parent #1 - pathogenic g.89985752dup g.89919344dup 86insA - MC1R_000004 associated with red hair, inheritance autosomal recessive PubMed: Flanagan 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86dup r.(?) p.(Asn29LysfsTer14) Unknown - VUS g.89985752dup g.89919344dup MC1R(NM_002386.3):c.86dup (p.(Asn29Lysfs*14)), MC1R(NM_002386.3):c.86dupA (p.N29Kfs*14) - MC1R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86dup r.(?) p.(Asn29LysfsTer14) Unknown - VUS g.89985752dup g.89919344dup MC1R(NM_002386.3):c.86dup (p.(Asn29Lysfs*14)), MC1R(NM_002386.3):c.86dupA (p.N29Kfs*14) - MC1R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112G>A r.(?) p.(Val38Met) Unknown - VUS g.89985778G>A g.89919370G>A MC1R(NM_002386.3):c.112G>A (p.(Val38Met)) - MC1R_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.178G>T r.(?) p.(Val60Leu) Parent #1 - benign g.89985844G>T g.89919436G>T - - MC1R_000013 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
+?/+? 1 c.178G>T r.(?) p.(Val60Leu) Parent #1 - likely pathogenic g.89985844G>T g.89919436G>T - - MC1R_000013 associated with red hair, partially penetrant autosomal recessive allele PubMed: Flanagan 2000 - rs1805005 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.178G>T r.(?) p.(Val60Leu) Parent #1 - benign g.89985844G>T g.89919436G>T V60L - MC1R_000013 - PubMed: Flanagan 2000 - - Germline - 46/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 46 Johan den Dunnen
-/. 1 c.178G>T r.(?) p.(Val60Leu) Parent #1 - benign g.89985844G>T g.89919436G>T V60L - MC1R_000013 - PubMed: Flanagan 2000 - - Germline - 4/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 4 Johan den Dunnen
-/. - c.178G>T r.(?) p.(Val60Leu) Unknown - benign g.89985844G>T g.89919436G>T MC1R(NM_002386.4):c.178G>T (p.V60L) - MC1R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>T r.(?) p.(Val60Leu) Parent #1 - benign g.89985844G>T g.89919436G>T - - MC1R_000013 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1805005 Germline - 33/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 33 Mohammed Faruq
+/+ 1 c.178G>Y r.(?) p.(Val60Leu) Maternal (confirmed) - pathogenic g.89985844G>Y g.89919436G>Y V60L - MC1R_000010 - PubMed: Flanagan 2000 - - Germline yes 2/10 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 2 brothers M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/+ 1 c.178G>Y r.(?) p.(Val60Leu) Parent #1 - pathogenic g.89985844G>Y g.89919436G>Y V60L - MC1R_000010 - PubMed: Flanagan 2000 - - Germline - 1/10 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.178G>Y r.(?) p.(Val60Leu) Parent #2 - pathogenic g.89985844G>C g.89919436G>Y V60L - MC1R_000010 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Flanagan 2000 - - Germline yes 1/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 2 individuals, 1 no red hair F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.178G>Y r.(?) p.(Val60Leu) Parent #1 - pathogenic g.89985844G>Y g.89919436G>Y V60L - MC1R_000010 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype), 2 relatives M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
?/. - c.179T>C r.(?) p.(Val60Ala) Unknown - VUS g.89985845T>C - MC1R(NM_002386.3):c.179T>C (p.V60A) - MC1R_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.195G>T r.(?) p.(Lys65Asn) Parent #1 - benign g.89985861G>T g.89919453G>T - - MC1R_000016 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268_Cas PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
?/. 1 c.247T>C r.(?) p.(Ser83Pro) Unknown - VUS g.89985913T>C g.89919505T>C MC1R(NM_002386.3):c.247T>C (p.(Ser83Pro)) - MC1R_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>A r.(?) p.(Asp84Glu) Unknown - likely benign g.89985918C>A g.89919510C>A MC1R(NM_002386.3):c.252C>A (p.(Asp84Glu)), MC1R(NM_002386.4):c.252C>A (p.D84E) - MC1R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>A r.(?) p.(Asp84Glu) Unknown - likely benign g.89985918C>A - MC1R(NM_002386.3):c.252C>A (p.(Asp84Glu)), MC1R(NM_002386.4):c.252C>A (p.D84E) - MC1R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.252C>R r.(?) p.(Asp84Glu) Parent #1 - benign g.89985918C>R - - - MC1R_000008 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 2 Jamie Zeegers
+/+ 1 c.252C>R r.(?) p.(Asp84Glu) Paternal (inferred) - pathogenic g.89985918C>R g.89919510C>R D84E - MC1R_000008 - PubMed: Flanagan 2000 - - Germline yes 1/10 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 4-generation family, 10 red hair (4F, 6M) F;M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/+ 1 c.252C>R r.(?) p.(Asp84Glu) Maternal (confirmed) - pathogenic g.89985918C>R g.89919510C>R D84E - MC1R_000008 - PubMed: Flanagan 2000 - - Germline yes 2/10 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 2 sisters F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/+ 1 c.252C>R r.(?) p.(Asp84Glu) Parent #2 - pathogenic g.89985918C>R g.89919510C>R D84E - MC1R_000008 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.252C>R r.(?) p.(Asp84Glu) Parent #1 - pathogenic g.89985918C>R g.89919510C>R D84E - MC1R_000008 - PubMed: Flanagan 2000 - - Germline - 4/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 4 Johan den Dunnen
+/+ 1 c.252C>R r.(?) p.(Asp84Glu) Parent #1 - pathogenic g.89985918C>R g.89919510C>R D84E - MC1R_000008 - PubMed: Flanagan 2000 - - Germline - 1/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 1 Johan den Dunnen
-?/-? 1 c.274G>A r.(?) p.(Val92Met) Paternal (inferred) - likely benign g.89985940G>A g.89919532G>A V92M - MC1R_000005 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) F;M - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
-?/-? 1 c.274G>A r.(?) p.(Val92Met) Parent #2 - likely benign g.89985940G>A g.89919532G>A V92M - MC1R_000005 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/-? 1 c.274G>A r.(?) p.(Val92Met) Parent #2 - likely benign g.89985940G>A g.89919532G>A V92M - MC1R_000005 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/-? 1 c.274G>A r.(?) p.(Val92Met) Parent #2 - likely benign g.89985940G>A g.89919532G>A V92M - MC1R_000005 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/-? 1 c.274G>A r.(?) p.(Val92Met) Parent #1 - likely benign g.89985940G>A g.89919532G>A V92M - MC1R_000005 - PubMed: Flanagan 2000 - - Germline - 28/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 28 Johan den Dunnen
-?/-? 1 c.274G>A r.(?) p.(Val92Met) Parent #1 - likely benign g.89985940G>A g.89919532G>A V92M - MC1R_000005 - PubMed: Flanagan 2000 - - Germline - 1/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 1 Johan den Dunnen
-/. - c.274G>A r.(?) p.(Val92Met) Unknown - benign g.89985940G>A g.89919532G>A MC1R(NM_002386.4):c.274G>A (p.V92M) - MC1R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.274G>A r.(?) p.(Val92Met) Parent #1 - likely benign g.89985940G>A g.89919532G>A - - MC1R_000005 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
-/. - c.274G>A r.(?) p.(Val92Met) Parent #1 - benign g.89985940G>A g.89919532G>A - - MC1R_000005 123 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2228479 Germline - 123/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 123 Mohammed Faruq
-/. - c.274G>A r.(?) p.(Val92Met) Both (homozygous) - benign g.89985940G>A g.89919532G>A - - MC1R_000005 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2228479 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. 1 c.274G>C r.(?) p.(Val92Leu) Parent #1 - benign g.89985940G>C g.89919532G>C - - MC1R_000017 - PubMed: Box 1997 - - Germline - 1/33 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
-?/. 1 c.274G>C r.(?) p.(Val92Leu) Both (homozygous) - likely benign g.89985940G>C g.89919532G>C - - MC1R_000017 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268_Cas PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
?/? 1 c.284C>T r.(?) p.(Thr95Met) Parent #1 - VUS g.89985950C>T g.89919542C>T T95M - MC1R_000014 0/298 chromosomes (non-red hair) PubMed: Flanagan 2000 - - Germline - 1/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 1 Johan den Dunnen
-/. - c.284C>T r.(?) p.(Thr95Met) Unknown - benign g.89985950C>T g.89919542C>T MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M) - MC1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284C>T r.(?) p.(Thr95Met) Unknown - likely benign g.89985950C>T g.89919542C>T MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M) - MC1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284C>T r.(?) p.(Thr95Met) Unknown - likely benign g.89985950C>T g.89919542C>T MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M) - MC1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310G>A r.(?) p.(Gly104Ser) Unknown - VUS g.89985976G>A g.89919568G>A MC1R(NM_002386.4):c.310G>A (p.G104S) - MC1R_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333G>A r.(?) p.(Ala111=) Unknown - likely benign g.89985999G>A g.89919591G>A MC1R(NM_002386.3):c.333G>A (p.A111=) - MC1R_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334G>A r.(?) p.(Val112Met) Unknown - likely benign g.89986000G>A g.89919592G>A MC1R(NM_002386.3):c.334G>A (p.V112M) - MC1R_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392G>A r.(?) p.(Ser131Asn) Unknown - VUS g.89986058G>A g.89919650G>A MC1R(NM_002386.4):c.392G>A (p.S131N) - MC1R_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399C>T r.(?) p.(Cys133=) Unknown - benign g.89986065C>T g.89919657C>T MC1R(NM_002386.4):c.399C>T (p.C133=) - MC1R_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415G>A r.(?) p.(Ala139Thr) Unknown - VUS g.89986081G>A g.89919673G>A MC1R(NM_002386.3):c.415G>A (p.A139T) - MC1R_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.425G>A r.(?) p.(Arg142His) Parent #1 - benign g.89986091G>A g.89919683G>A - - MC1R_000011 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #2 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline yes 2/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 3 sisters, 1 no red hair F - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #2 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline - 1/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #2 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype), 2 relatives M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #1 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype), 2 relatives F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #1 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.425G>A r.(?) p.(Arg142His) Parent #1 - pathogenic g.89986091G>A g.89919683G>A - - MC1R_000011 associated with red hair, inheritance autosomal recessive PubMed: Flanagan 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #1 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline - 1/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 1 Johan den Dunnen
+/? 1 c.425G>A r.(?) p.(Arg142His) Parent #1 - pathogenic g.89986091G>A g.89919683G>A R142H - MC1R_000011 - PubMed: Flanagan 2000 - - Germline - 1/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 1 Johan den Dunnen
-?/. - c.425G>A r.(?) p.(Arg142His) Unknown - likely benign g.89986091G>A g.89919683G>A MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His)) - MC1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425G>A r.(?) p.(Arg142His) Unknown - likely benign g.89986091G>A g.89919683G>A MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His)) - MC1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425G>A r.(?) p.(Arg142His) Unknown - likely benign g.89986091G>A g.89919683G>A MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His)) - MC1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Ala149Thr) Unknown - VUS g.89986111G>A g.89919703G>A MC1R(NM_002386.3):c.445G>A (p.A149T) - MC1R_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - association g.89986117C>T g.89919709C>T - - MC1R_000003 - PubMed: Box 1997 - - Germline - 15/25 cases (5 homozygous) - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 15 Jamie Zeegers
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #2 - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline yes 4/13 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - F;M - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Maternal (confirmed) - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) F;M - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #2 - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline yes 5/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - F;M - United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline yes 1/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 2 individuals, 1 no red hair F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline - 1/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - pathogenic g.89986117C>T g.89919709C>T - - MC1R_000003 associated with red hair, inheritance autosomal recessive; in heterozygotes significantly elevated risk of red hair PubMed: Flanagan 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline - 21/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 21 Johan den Dunnen
+/+ 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - pathogenic g.89986117C>T g.89919709C>T R151C - MC1R_000003 - PubMed: Flanagan 2000 - - Germline - 12/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 12 Johan den Dunnen
-/. - c.451C>T r.(?) p.(Arg151Cys) Unknown - benign g.89986117C>T g.89919709C>T MC1R(NM_002386.3):c.451C>T (p.(Arg151Cys)), MC1R(NM_002386.4):c.451C>T (p.R151C) - MC1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - association g.89986117C>T g.89919709C>T - - MC1R_000003 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268_Cas PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
+?/. 1 c.451C>T r.(?) p.(Arg151Cys) Parent #1 - association g.89986117C>T g.89919709C>T - - MC1R_000003 - PubMed: Box 1997 - - Germline - 1/33 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
-?/. - c.451C>T r.(?) p.(Arg151Cys) Unknown - likely benign g.89986117C>T g.89919709C>T MC1R(NM_002386.3):c.451C>T (p.(Arg151Cys)), MC1R(NM_002386.4):c.451C>T (p.R151C) - MC1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.453C>G r.(?) p.(Arg151=) Unknown - VUS g.89986119C>G g.89919711C>G MC1R(NM_002386.4):c.453C>G (p.R151=) - MC1R_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.456C>A r.(?) p.(Tyr152Ter) Unknown - pathogenic g.89986122C>A g.89919714C>A MC1R(NM_002386.3):c.456C>A (p.Y152*) - MC1R_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.464T>C r.(?) p.(Ile155Thr) Parent #1 - benign g.89986130T>C g.89919722T>C - - MC1R_000007 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
-?/-? 1 c.464T>C r.(?) p.(Ile155Thr) Parent #2 - likely benign g.89986130T>C g.89919722T>C I155T - MC1R_000007 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 control (no red hair phenotype) M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. 1 c.464T>C r.(?) p.(Ile155Thr) Parent #1 - benign g.89986130T>C g.89919722T>C I155T - MC1R_000007 0/36 chromosomes (red hair) PubMed: Flanagan 2000 - - Germline - 3/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 3 Johan den Dunnen
-/. - c.464T>C r.(?) p.(Ile155Thr) Unknown - benign g.89986130T>C - MC1R(NM_002386.4):c.464T>C (p.(Ile155Thr)) - MC1R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467T>C r.(?) p.(Val156Ala) Unknown - VUS g.89986133T>C g.89919725T>C MC1R(NM_002386.3):c.467T>C (p.V156A) - MC1R_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - association g.89986144C>T g.89919736C>T - - MC1R_000002 - PubMed: Box 1997 - - Germline - 8/25 cases (2 homozygous) - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 8 Jamie Zeegers
+/+ 1 c.478C>T r.(?) p.(Arg160Trp) Maternal (confirmed) - pathogenic g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline yes 2/13 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 4-generation family, 13 red hair (7F, 6M) F;M - United Kingdom (Great Britain) - - - - - 13 Johan den Dunnen
+/+ 1 c.478C>T r.(?) p.(Arg160Trp) Maternal (confirmed) - pathogenic g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline yes 1/10 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 4-generation family, 10 red hair (4F, 6M) F;M - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/+ 1 c.478C>T r.(?) p.(Arg160Trp) Paternal (inferred) - pathogenic g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline yes 1/10 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - pathogenic g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline yes 2/12 cases - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 brother and sister F;M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/+ 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - pathogenic g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Flanagan 2000 controls (no red hair phenotype) M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - pathogenic g.89986144C>T g.89919736C>T - - MC1R_000002 associated with red hair, inheritance autosomal recessive PubMed: Flanagan 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - benign g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline - 20/298 chromosomes - - - DNA SEQ - - - - PubMed: Flanagan 2000 149 non-red hair individuals - - - European, white (white) - - - - 20 Johan den Dunnen
-/. 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - benign g.89986144C>T g.89919736C>T R160W - MC1R_000002 - PubMed: Flanagan 2000 - - Germline - 9/36 chromosomes - - - DNA SEQ - - SHEP2 - PubMed: Flanagan 2000 18 red hair individuals - - - European, white (white) - - - - 9 Johan den Dunnen
-/. - c.478C>T r.(?) p.(Arg160Trp) Unknown - benign g.89986144C>T g.89919736C>T MC1R(NM_002386.4):c.478C>T (p.R160W, p.(Arg160Trp)) - MC1R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.478C>T r.(?) p.(Arg160Trp) Parent #1 - association g.89986144C>T g.89919736C>T - - MC1R_000002 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
?/. - c.478C>T r.(?) p.(Arg160Trp) Parent #1 - VUS g.89986144C>T g.89919736C>T - - MC1R_000002 conflicting interpretations of pathogenicity; 39 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1805008 Germline - 39/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 39 Mohammed Faruq
?/. - c.478C>T r.(?) p.(Arg160Trp) Both (homozygous) - VUS g.89986144C>T g.89919736C>T - - MC1R_000002 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1805008 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.478C>T r.(?) p.(Arg160Trp) Unknown - likely benign g.89986144C>T - MC1R(NM_002386.4):c.478C>T (p.R160W, p.(Arg160Trp)) - MC1R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.488G>A r.(?) p.(Arg163Gln) Parent #1 - benign g.89986154G>A g.89919746G>A - - MC1R_000012 - PubMed: Box 1997 - - Germline - 1/25 cases - - - DNA PCR, SEQ - - Healthy/Control 9302268 PubMed: Box 1997 - - - Australia - - - - - 1 Jamie Zeegers
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