ClinVar

NM_138959.3(VANGL1):c.947-106C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.1

Genomic location:

• Chr1: 115683838 (on Assembly GRCh38)
• Chr1: 116226459 (on Assembly GRCh37)

Preferred name:

NM_138959.3(VANGL1):c.947-106C>T

HGVS:

• NC_000001.11:g.115683838C>T
• NG_016548.1:g.46886C>T
• NM_001172411.2:c.941-106C>T
• NM_001172412.2:c.947-106C>T
• NM_138959.3:c.947-106C>TMANE SELECT
• NC_000001.10:g.116226459C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs12144356

NCBI 1000 Genomes Browser:

rs12144356

Molecular consequence:

• NM_001172411.2:c.941-106C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001172412.2:c.947-106C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_138959.3:c.947-106C>T - intron variant - [Sequence Ontology: SO:0001627]