ClinVar

NM_052865.4(MGME1):c.43A>T (p.Ser15Cys)

Genes:

LOC126862983:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:17950167-17951366 [Gene]
MGME1:mitochondrial genome maintenance exonuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

• Chr20: 17969902 (on Assembly GRCh38)
• Chr20: 17950545 (on Assembly GRCh37)

Preferred name:

NM_052865.4(MGME1):c.43A>T (p.Ser15Cys)

HGVS:

• NC_000020.11:g.17969902A>T
• NG_042236.1:g.6012A>T
• NM_001310338.2:c.43A>T
• NM_001310339.2:c.43A>T
• NM_001363738.2:c.43A>T
• NM_052865.4:c.43A>TMANE SELECT
• NP_001297267.1:p.Ser15Cys
• NP_001297268.1:p.Ser15Cys
• NP_001350667.1:p.Ser15Cys
• NP_443097.1:p.Ser15Cys
• NC_000020.10:g.17950545A>T
• NM_052865.2:c.43A>T

This HGVS expression did not pass validation

Protein change:

S15C

Links:

dbSNP: rs11551768

NCBI 1000 Genomes Browser:

rs11551768

Molecular consequence:

• NM_001310338.2:c.43A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001310339.2:c.43A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363738.2:c.43A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_052865.4:c.43A>T - missense variant - [Sequence Ontology: SO:0001583]