ClinVar

NM_138959.3(VANGL1):c.714C>T (p.Ile238=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 115664170 (on Assembly GRCh38)
• Chr1: 116206791 (on Assembly GRCh37)

Preferred name:

NM_138959.3(VANGL1):c.714C>T (p.Ile238=)

HGVS:

• NC_000001.11:g.115664170C>T
• NG_016548.1:g.27218C>T
• NM_001172411.2:c.708C>T
• NM_001172412.2:c.714C>T
• NM_138959.3:c.714C>TMANE SELECT
• NP_001165882.1:p.Ile236=
• NP_001165883.1:p.Ile238=
• NP_620409.1:p.Ile238=
• NC_000001.10:g.116206791C>T
• NM_138959.2:c.714C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376477305

NCBI 1000 Genomes Browser:

rs376477305

Molecular consequence:

• NM_001172411.2:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172412.2:c.714C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_138959.3:c.714C>T - synonymous variant - [Sequence Ontology: SO:0001819]