ClinVar

NM_145064.3(STAC3):c.1022C>T (p.Ala341Val)

Gene:

STAC3:SH3 and cysteine rich domain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 57243885 (on Assembly GRCh38)
• Chr12: 57637668 (on Assembly GRCh37)

Preferred name:

NM_145064.3(STAC3):c.1022C>T (p.Ala341Val)

HGVS:

• NC_000012.12:g.57243885G>A
• NG_033835.1:g.12309C>T
• NM_001286256.2:c.905C>T
• NM_001286257.2:c.464C>T
• NM_145064.1:c.1022C>T
• NM_145064.3:c.1022C>TMANE SELECT
• NP_001273185.1:p.Ala302Val
• NP_001273186.1:p.Ala155Val
• NP_659501.1:p.Ala341Val
• NC_000012.11:g.57637668G>A
• NM_145064.2:c.1022C>T
• NM_145064.3:c.1022C>T
• NR_104422.2:n.718C>T

This HGVS expression did not pass validation

Protein change:

A155V

Links:

dbSNP: rs753014378

NCBI 1000 Genomes Browser:

rs753014378

Molecular consequence:

• NM_001286256.2:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286257.2:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145064.3:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104422.2:n.718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]