ClinVar

NM_014000.3(VCL):c.2801C>T (p.Ala934Val)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

• Chr10: 74111964 (on Assembly GRCh38)
• Chr10: 75871722 (on Assembly GRCh37)

Preferred name:

NM_014000.3(VCL):c.2801C>T (p.Ala934Val)

Other names:

p.A934V:GCC>GTC

HGVS:

• NC_000010.11:g.74111964C>T
• NG_008868.1:g.118851C>T
• NM_003373.4:c.2746-2220C>T
• NM_014000.3:c.2801C>TMANE SELECT
• NP_054706.1:p.Ala934Val
• NP_054706.1:p.Ala934Val
• LRG_383t1:c.2801C>T
• LRG_383:g.118851C>T
• LRG_383p1:p.Ala934Val
• NC_000010.10:g.75871722C>T
• NM_014000.2:c.2801C>T
• P18206:p.Ala934Val
• c.2801C>T

This HGVS expression did not pass validation

Protein change:

A934V

Links:

UniProtKB: P18206#VAR_035102; dbSNP: rs16931179

NCBI 1000 Genomes Browser:

rs16931179

Molecular consequence:

• NM_003373.4:c.2746-2220C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014000.3:c.2801C>T - missense variant - [Sequence Ontology: SO:0001583]