ClinVar

NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr)

Gene:

VANGL1:VANGL planar cell polarity protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 115663802 (on Assembly GRCh38)
• Chr1: 116206423 (on Assembly GRCh37)

Preferred name:

NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr)

HGVS:

• NC_000001.11:g.115663802G>A
• NG_016548.1:g.26850G>A
• NM_001172411.2:c.340G>A
• NM_001172412.2:c.346G>A
• NM_138959.3:c.346G>AMANE SELECT
• NP_001165882.1:p.Ala114Thr
• NP_001165883.1:p.Ala116Thr
• NP_620409.1:p.Ala116Thr
• NC_000001.10:g.116206423G>A
• NM_138959.2:c.346G>A
• Q8TAA9:p.Ala116Thr

This HGVS expression did not pass validation

Protein change:

A114T

Links:

UniProtKB: Q8TAA9#VAR_027143; dbSNP: rs4839469

NCBI 1000 Genomes Browser:

rs4839469

Molecular consequence:

• NM_001172411.2:c.340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172412.2:c.346G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_138959.3:c.346G>A - missense variant - [Sequence Ontology: SO:0001583]