Full data view for gene MC2R

Information The variants shown are described using the NM_000529.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-1350142_*462582dup r.? p.? Unknown - pathogenic g.13422042_15265500dup g.13422043_15265501dup - - ANKRD20A5P_000001 mosaicism, copy number 3 in 0.50 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-179T>C r.(?) p.(=) Unknown - VUS g.13915537A>G g.13915538A>G - - MC2R_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58G>A r.(?) p.(Asp20Asn) Unknown - VUS g.13885460C>T - MC2R(NM_000529.2):c.58G>A (p.D20N) - MC2R_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80C>G r.(?) p.(Pro27Arg) Unknown - likely benign g.13885438G>C g.13885439G>C MC2R(NM_001291911.1):c.80C>G (p.P27R) - MC2R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.98C>A r.(?) p.(Thr33Lys) Both (homozygous) ACMG likely pathogenic (recessive) g.13885420G>T - - - MC2R_000015 - - - - Germline - - - - - DNA SEQ-NG-I blood WES GCCD1 #1 - - M ? Italy - - - - - 1 Annalaura Torella
?/. - c.133G>A r.(?) p.(Val45Ile) Unknown - VUS g.13885385C>T g.13885386C>T MC2R(NM_000529.2):c.133G>A (p.(Val45Ile), p.V45I), MC2R(NM_001291911.1):c.133G>A (p.V45I) - MC2R_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133G>A r.(?) p.(Val45Ile) Unknown - likely benign g.13885385C>T - MC2R(NM_000529.2):c.133G>A (p.(Val45Ile), p.V45I), MC2R(NM_001291911.1):c.133G>A (p.V45I) - MC2R_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>A r.(?) p.(Val45Ile) Unknown - VUS g.13885385C>T - MC2R(NM_000529.2):c.133G>A (p.(Val45Ile), p.V45I), MC2R(NM_001291911.1):c.133G>A (p.V45I) - MC2R_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318C>T r.(?) p.(Ile106=) Unknown - likely benign g.13885200G>A - MC2R(NM_001291911.1):c.318C>T (p.I106=) - MC2R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455C>G r.(?) p.(Thr152Arg) Unknown - likely benign g.13885063G>C g.13885064G>C MC2R(NM_000529.2):c.455C>G (p.(Thr152Arg)) - MC2R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537G>A r.(?) p.(Thr179=) Unknown - likely benign g.13884981C>T g.13884982C>T MC2R(NM_000529.2):c.537G>A (p.T179=) - MC2R_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.652_653insA r.(?) p.(Ala218AspfsTer31) Unknown - pathogenic g.13884865_13884866insT g.13884866_13884867insT MC2R(NM_001291911.1):c.652_653insA (p.A218Dfs*31) - MC2R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.652_653insA r.(?) p.(Ala218AspfsTer31) Unknown - pathogenic g.13884865_13884866insT g.13884866_13884867insT MC2R(NM_001291911.1):c.652_653insA (p.A218Dfs*31) - MC2R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701C>T r.(?) p.(Pro234Leu) Unknown - VUS g.13884817G>A - MC2R(NM_000529.2):c.701C>T (p.(Pro234Leu)) - MC2R_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712C>T r.(?) p.(His238Tyr) Both (homozygous) - pathogenic (recessive) g.13884806C>T g.13884807G>A - - MC2R_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - GCCD1 - - unaffected heterozygous carrier parents F no China Chinese,Han - - - hydrocortisone 1 Wenjuan Qiu
+?/. - c.712C>T r.(?) p.(His238Tyr) Both (homozygous) ACMG likely pathogenic g.13884806G>A g.13884807G>A - - MC2R_000013 - PubMed: Duan 2023 - - Germline - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat96 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
-?/. - c.765G>A r.(?) p.(Met255Ile) Unknown - likely benign g.13884753C>T - MC2R(NM_000529.2):c.765G>A (p.M255I) - MC2R_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.791T>A r.(?) p.(Leu264Ter) Unknown - pathogenic g.13884727A>T g.13884728A>T - - MC2R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.833T>G r.(?) p.(Phe278Cys) Parent #1 - likely benign g.13884685A>C g.13884686A>C - - MC2R_000011 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28926182 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.889T>C r.(?) p.(Trp297Arg) Unknown - likely benign g.13884629A>G g.13884630A>G MC2R(NM_000529.2):c.889T>C (p.(Trp297Arg)), MC2R(NM_001291911.1):c.889T>C (p.W297R) - MC2R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.889T>C r.(?) p.(Trp297Arg) Unknown - likely benign g.13884629A>G g.13884630A>G MC2R(NM_000529.2):c.889T>C (p.(Trp297Arg)), MC2R(NM_001291911.1):c.889T>C (p.W297R) - MC2R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*58G>A r.(=) p.(=) Unknown - benign g.13884566C>T g.13884567C>T - - MC2R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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