Full data view for gene MMACHC

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

2 entries on 1 page. Showing entries 1 - 2.
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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.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
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