ClinVar

NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101348565 (on Assembly GRCh38)
• ChrX: 100603553 (on Assembly GRCh37)

Preferred name:

NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter)

HGVS:

• NC_000023.11:g.101348565G>A
• NG_009616.1:g.42660C>T
• NG_011734.1:g.5405C>T
• NM_001145951.2:c.100C>T
• NM_004085.4:c.100C>TMANE SELECT
• NP_001139423.1:p.Gln34Ter
• NP_004076.1:p.Gln34Ter
• LRG_128:g.42660C>T
• NC_000023.10:g.100603553G>A
• NM_004085.3:c.100C>T

This HGVS expression did not pass validation

Protein change:

Q34*

Links:

dbSNP: rs863224234

NCBI 1000 Genomes Browser:

rs863224234

Molecular consequence:

• NM_001145951.2:c.100C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004085.4:c.100C>T - nonsense - [Sequence Ontology: SO:0001587]