Full data view for gene MMACHC

Information The variants shown are described using the NM_015506.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
Legend   How to query  

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     
-/. _1 - r.(=) p.(=) Parent #1 - benign g.45965703G>T - -302G>T - MMACHC_000038 - PubMed: Guéant 2018 - rs3748643 Germline - - - 0 - DNA SEQ - - MAHCC WG-4152 PubMed: Guéant 2018 - M - - white >59y 0 - - 1 Johan den Dunnen
-/. _1 - r.0 p.0 Paternal (confirmed) - benign g.45965703G>T g.45500031G>T -302G>T - MMACHC_000038 - - - rs3748643 Germline - - - 0 - DNA SEQ - - MAHCC WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m 0 - - 1 Johan den Dunnen
-/. _1 - r.(=) p.(=) Maternal (confirmed) - benign g.45965703G>T g.45500031G>T -302G>T - MMACHC_000038 - PubMed: Guéant 2018 - rs3748643 Germline - - - 0 - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m 0 - - 1 Johan den Dunnen
+/. - - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.45977087C>A g.45511415C>A - - PRDX1_000001 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline - - - 0 - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m 0 - - 1 Johan den Dunnen
+/. - - r.0 p.0 Parent #2 - pathogenic (recessive) g.45977087C>A g.45511415C>A - - PRDX1_000001 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline - - - 0 - DNA SEQ - - MAHCC WG-4152 PubMed: Guéant 2018 - M - - white >59y 0 - - 1 Johan den Dunnen
+/. - - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.45977088T>A g.45511416T>A - - PRDX1_000002 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline yes - - 0 - DNA SEQ - - MAHCC WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m 0 - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) Parent #1 - pathogenic g.45966007G>A g.45500335G>A - - MMACHC_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs779893448 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.8C>G r.(?) p.(Pro3Arg) Unknown - VUS g.45966012C>G g.45500340C>G MMACHC(NM_015506.2):c.8C>G (p.P3R) - MMACHC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47T>C r.(?) p.(Leu16Pro) Unknown - VUS g.45966051T>C g.45500379T>C MMACHC(NM_015506.2):c.47T>C (p.(Leu16Pro)) - MMACHC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Phe) Unknown - VUS g.45966071G>T g.45500399G>T MMACHC(NM_015506.2):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Phe) Unknown - VUS g.45966071G>T - MMACHC(NM_015506.2):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.80A>G r.(?) p.(Gln27Arg) Parent #2 - likely pathogenic g.45966084A>G - - - MMACHC_000034 - - - - Germline - - - - - DNA SEQ-NG - - MAHCC 92 - - M - China - - - - - 1 Sha Hong
+/. - c.81G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.45966085G>A g.45500413G>A - - MMACHC_000036 - PubMed: Guéant 2018 - - Germline - - - 0 - DNA SEQ - - MAHCC WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m 0 - - 1 Johan den Dunnen
-?/. - c.126G>A r.(?) p.(Pro42=) Unknown - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_015506.2):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Pro42=) Unknown - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_015506.2):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>T r.(?) p.(Ala49Ser) Unknown - VUS g.45973091G>T - MMACHC(NM_015506.2):c.145G>T (p.A49S) - MMACHC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.157C>T r.(?) p.(Leu53Phe) Unknown - VUS g.45973103C>T g.45507431C>T MMACHC(NM_015506.2):c.157C>T (p.(Leu53Phe)) - MMACHC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.158T>C r.(?) p.(Leu53Pro) Parent #1 - pathogenic (recessive) g.45973104T>C g.45507432T>C - - MMACHC_000037 - PubMed: Guéant 2018 - - Germline - - - 0 - DNA SEQ - - MAHCC WG-4152 PubMed: Guéant 2018 - M - - white >59y 0 - - 1 Johan den Dunnen
-/. - c.178G>C r.(?) p.(Asp60His) Unknown - benign g.45973124G>C g.45507452G>C MMACHC(NM_015506.2):c.178G>C (p.D60H) - MMACHC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - likely benign g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217C>T r.(?) p.(Arg73*) Parent #1 - pathogenic (recessive) g.45973163C>T - - - MMACHC_000031 - - - - Germline - - - 0 - DNA SEQ-NG - - ? 15 - - M - China - - 0 - - 1 Sha Hong
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) Unknown - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) Unknown - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_015506.2):c.271dup (p.(Arg91Lysfs*14)), MMACHC(NM_015506.2):c.271dupA (p.R91Kfs*14) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.271dup p.Arg91Lysfs*14 Maternal (confirmed) - pathogenic (recessive) g.45973217dup g.45507545dup 270_271insA - MMACHC_000001 - PubMed: Guéant 2018 - - Germline - - - 0 - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m 0 - - 1 Johan den Dunnen
+?/. - c.276G>T r.(?) p.(Glu92Asp) Unknown - likely pathogenic g.45973222G>T g.45507550G>T MMACHC(NM_015506.2):c.276G>T (p.E92D) - MMACHC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.276+6del r.(=) p.(=) Unknown - likely benign g.45973228del g.45507556del MMACHC(NM_015506.2):c.276+6delG - MMACHC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_015506.2):c.316G>A (p.E106K) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_015506.2):c.316G>A (p.E106K) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_015506.2):c.316G>A (p.E106K) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Val107=) Unknown - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.2):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Val107=) Unknown - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.2):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Val107=) Unknown - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.2):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.347T>C r.(?) p.(Leu116Pro) Parent #1 - likely pathogenic g.45973954T>C g.45508282T>C - - MMACHC_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918240 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - likely pathogenic g.45973996A>G - - - MMACHC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394C>T r.(?) p.(Arg132*) Parent #1 - pathogenic g.45974001C>T g.45508329C>T - - MMACHC_000028 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918241 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+/. - c.394C>T r.(?) p.(Arg132*) Parent #2 - pathogenic (recessive) g.45974001C>T g.45508329C>T - - MMACHC_000028 - - - - Germline - - - 0 - DNA SEQ-NG - - ? 21 - - F - China - - 0 - - 1 Sha Hong
+/. 3 c.394C>T r.(?) p.(Arg132Ter) Both (homozygous) - pathogenic g.45974001C>T g.45508329C>T - - MMACHC_000028 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5406 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.405G>A r.(?) p.(Val135=) Unknown - likely benign g.45974012G>A g.45508340G>A MMACHC(NM_001330540.1):c.234G>A (p.V78=) - MMACHC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433A>G r.(?) p.(Ile145Val) Unknown - VUS g.45974471A>G g.45508799A>G - - MMACHC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - likely pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - likely pathogenic g.45974478G>C - MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472T>C r.(?) p.(Phe158Leu) Unknown - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.472T>C r.(?) p.(Phe158Leu) Unknown - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.609G>A r.(?) p.(Trp203*) Parent #2 - pathogenic g.45974647G>A - - - MMACHC_000032 - - - - Germline - - - 0 - DNA SEQ-NG - - ? 15 - - M - China - - 0 - - 1 Sha Hong
+/. - c.609G>A r.(?) p.(Trp203*) Parent #1 - pathogenic (recessive) g.45974647G>A g.45508975G>A - - MMACHC_000032 - - - - Germline - - - 0 - DNA SEQ-NG - - ? 21 - - F - China - - 0 - - 1 Sha Hong
+/. - c.658_660del r.(?) p.(Lys220del) Parent #2 - pathogenic g.45974696_45974698del g.45509024_45509026del 658_660delAAG - MMACHC_000033 no variant 2nd allele reported - - - Germline - - - 0 - DNA SEQ-NG - - ? 24 - - M - China - - 0 - - 1 Sha Hong
+/. - c.658_660del r.(?) p.(Lys220del) Parent #2 - pathogenic g.45974696_45974698del - - - MMACHC_000033 - - - - Germline - - - 0 - DNA SEQ-NG - - MAHCC 92 - - M - China - - - - - 1 Sha Hong
?/. - c.770C>T r.(?) p.(Pro257Leu) Unknown - VUS g.45974808C>T g.45509136C>T MMACHC(NM_015506.2):c.770C>T (p.P257L) - MMACHC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.797C>G r.(?) p.(Ala266Gly) Unknown - likely benign g.45974835C>G g.45509163C>G MMACHC(NM_015506.2):c.797C>G (p.(Ala266Gly)) - MMACHC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.811A>G r.(?) p.(Ser271Gly) Unknown - benign g.45974849A>G g.45509177A>G MMACHC(NM_015506.2):c.811A>G (p.S271G) - MMACHC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848G>C r.(?) p.(*283Serext*14) Unknown ACMG VUS g.45974886G>C g.45509214G>C - - MMACHC_000030 no second variant detected in MMACHC - - rs201025783 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.848G>C r.(?) p.(*283Serext*14) Unknown - VUS g.45974886G>C - MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14) - MMACHC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848G>T r.(?) p.(*283Leuext*14) Parent #1 - VUS g.45974886G>T g.45509214G>T - - MMACHC_000029 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201025783 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.848_*2del r.(?) p.(Ter283PheextTer6) Unknown - VUS g.45974886_45974889del g.45509214_45509217del MMACHC(NM_015506.2):c.846_849delTTGA (p.*283Ffs*7) - MMACHC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2173T>C r.(=) p.(=) Unknown - likely benign g.45977060T>C g.45511388T>C PRDX1(NM_001202431.1):c.541A>G (p.(Ser181Gly)) - MMACHC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query