ClinVar

NM_138959.3(VANGL1):c.231G>A (p.Thr77=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 115663687 (on Assembly GRCh38)
• Chr1: 116206308 (on Assembly GRCh37)

Preferred name:

NM_138959.3(VANGL1):c.231G>A (p.Thr77=)

HGVS:

• NC_000001.11:g.115663687G>A
• NG_016548.1:g.26735G>A
• NM_001172411.2:c.225G>A
• NM_001172412.2:c.231G>A
• NM_138959.3:c.231G>AMANE SELECT
• NP_001165882.1:p.Thr75=
• NP_001165883.1:p.Thr77=
• NP_620409.1:p.Thr77=
• NC_000001.10:g.116206308G>A
• NM_138959.2:c.231G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs186509771

NCBI 1000 Genomes Browser:

rs186509771

Molecular consequence:

• NM_001172411.2:c.225G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172412.2:c.231G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_138959.3:c.231G>A - synonymous variant - [Sequence Ontology: SO:0001819]