ClinVar

NM_014000.3(VCL):c.36C>T (p.Ile12=)

Genes:

LOC130004109:ATAC-STARR-seq lymphoblastoid active region 3587 [Gene]
VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

• Chr10: 73998243 (on Assembly GRCh38)
• Chr10: 75758001 (on Assembly GRCh37)

Preferred name:

NM_014000.3(VCL):c.36C>T (p.Ile12=)

HGVS:

• NC_000010.11:g.73998243C>T
• NG_008868.1:g.5130C>T
• NM_003373.4:c.36C>T
• NM_014000.3:c.36C>TMANE SELECT
• NP_003364.1:p.Ile12=
• NP_054706.1:p.Ile12=
• LRG_383t1:c.36C>T
• LRG_383:g.5130C>T
• NC_000010.10:g.75758001C>T
• NC_000010.10:g.75758001C>T
• NM_014000.2:c.36C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774195260

Molecular consequence:

• NM_003373.4:c.36C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014000.3:c.36C>T - synonymous variant - [Sequence Ontology: SO:0001819]