ClinVar

NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)

Gene:

TIMM50:translocase of inner mitochondrial membrane 50 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 39488079 (on Assembly GRCh38)
• Chr19: 39978719 (on Assembly GRCh37)

Preferred name:

NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)

HGVS:

• NC_000019.10:g.39488079C>T
• NG_051245.1:g.12668C>T
• NM_001001563.1:c.1024C>T
• NM_001001563.5:c.715C>TMANE SELECT
• NM_001329559.2:c.376C>T
• NP_001001563.2:p.Arg239Trp
• NP_001316488.1:p.Arg126Trp
• NC_000019.9:g.39978719C>T

This HGVS expression did not pass validation

Protein change:

R126W

Links:

dbSNP: rs1449758112

NCBI 1000 Genomes Browser:

rs1449758112

Molecular consequence:

• NM_001001563.5:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329559.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1