ClinVar

NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 115663979 (on Assembly GRCh38)
• Chr1: 116206600 (on Assembly GRCh37)

Preferred name:

NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)

HGVS:

• NC_000001.11:g.115663979C>T
• NG_016548.1:g.27027C>T
• NM_001172411.2:c.517C>T
• NM_001172412.2:c.523C>T
• NM_138959.3:c.523C>TMANE SELECT
• NP_001165882.1:p.Arg173Trp
• NP_001165883.1:p.Arg175Trp
• NP_620409.1:p.Arg175Trp
• NC_000001.10:g.116206600C>T
• NM_138959.2:c.523C>T

This HGVS expression did not pass validation

Protein change:

R173W

Links:

dbSNP: rs142594314

NCBI 1000 Genomes Browser:

rs142594314

Molecular consequence:

• NM_001172411.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172412.2:c.523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_138959.3:c.523C>T - missense variant - [Sequence Ontology: SO:0001583]