ClinVar

NM_004085.4(TIMM8A):c.132+50T>G

Gene:

TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101348483 (on Assembly GRCh38)
• ChrX: 100603471 (on Assembly GRCh37)

Preferred name:

NM_004085.4(TIMM8A):c.132+50T>G

HGVS:

• NC_000023.11:g.101348483A>C
• NG_009616.1:g.42742T>G
• NG_011734.1:g.5487T>G
• NM_001145951.2:c.132+50T>G
• NM_004085.4:c.132+50T>GMANE SELECT
• LRG_128:g.42742T>G
• NC_000023.10:g.100603471A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs150392163

NCBI 1000 Genomes Browser:

rs150392163

Molecular consequence:

• NM_001145951.2:c.132+50T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_004085.4:c.132+50T>G - intron variant - [Sequence Ontology: SO:0001627]