ClinVar

NM_014000.3(VCL):c.2904C>T (p.Ala968=)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

• Chr10: 74112067 (on Assembly GRCh38)
• Chr10: 75871825 (on Assembly GRCh37)

Preferred name:

NM_014000.3(VCL):c.2904C>T (p.Ala968=)

HGVS:

• NC_000010.11:g.74112067C>T
• NG_008868.1:g.118954C>T
• NM_003373.4:c.2746-2117C>T
• NM_014000.3:c.2904C>TMANE SELECT
• NP_054706.1:p.Ala968=
• LRG_383t1:c.2904C>T
• LRG_383:g.118954C>T
• NC_000010.10:g.75871825C>T
• NM_014000.2:c.2904C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs558112511

NCBI 1000 Genomes Browser:

rs558112511

Molecular consequence:

• NM_003373.4:c.2746-2117C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014000.3:c.2904C>T - synonymous variant - [Sequence Ontology: SO:0001819]