ClinVar

NM_015602.4(TOR1AIP1):c.437T>C (p.Met146Thr)

Genes:

LOC112577517:Sharpr-MPRA regulatory region 13766 [Gene]
TOR1AIP1:torsin 1A interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 179882939 (on Assembly GRCh38)
• Chr1: 179852074 (on Assembly GRCh37)

Preferred name:

NM_015602.4(TOR1AIP1):c.437T>C (p.Met146Thr)

HGVS:

• NC_000001.11:g.179882939T>C
• NG_042316.1:g.5898T>C
• NG_053185.1:g.676A>G
• NG_060366.1:g.486T>C
• NM_001267578.2:c.437T>C
• NM_015602.4:c.437T>CMANE SELECT
• NP_001254507.1:p.Met146Thr
• NP_001254507.1:p.Met146Thr
• NP_056417.2:p.Met146Thr
• NC_000001.10:g.179852074T>C
• NM_001267578.1:c.437T>C
• Q5JTV8:p.Met146Thr

This HGVS expression did not pass validation

Protein change:

M146T

Links:

UniProtKB: Q5JTV8#VAR_025717; dbSNP: rs1281378

NCBI 1000 Genomes Browser:

rs1281378

Molecular consequence:

• NM_001267578.2:c.437T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015602.4:c.437T>C - missense variant - [Sequence Ontology: SO:0001583]