ClinVar

NM_138959.3(VANGL1):c.435T>C (p.Cys145=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 115663891 (on Assembly GRCh38)
• Chr1: 116206512 (on Assembly GRCh37)

Preferred name:

NM_138959.3(VANGL1):c.435T>C (p.Cys145=)

HGVS:

• NC_000001.11:g.115663891T>C
• NG_016548.1:g.26939T>C
• NM_001172411.2:c.429T>C
• NM_001172412.2:c.435T>C
• NM_138959.3:c.435T>CMANE SELECT
• NP_001165882.1:p.Cys143=
• NP_001165883.1:p.Cys145=
• NP_620409.1:p.Cys145=
• NC_000001.10:g.116206512T>C
• NM_138959.2:c.435T>C
• NP_620409.1:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs34768472

NCBI 1000 Genomes Browser:

rs34768472

Molecular consequence:

• NM_001172411.2:c.429T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172412.2:c.435T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_138959.3:c.435T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1