ClinVar

NM_001177701.3(IFT27):c.235-15G>A

Genes:

CACNG2-DT:CACNG2 divergent transcript [Gene - HGNC]
IFT27:intraflagellar transport 27 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 36764051 (on Assembly GRCh38)
• Chr22: 37160095 (on Assembly GRCh37)

Preferred name:

NM_001177701.3(IFT27):c.235-15G>A

HGVS:

• NC_000022.11:g.36764051C>T
• NG_034205.1:g.17083G>A
• NM_001177701.3:c.235-15G>AMANE SELECT
• NM_001363003.2:c.235-15G>A
• NM_006860.5:c.232-15G>A
• NC_000022.10:g.37160095C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs183017913

NCBI 1000 Genomes Browser:

rs183017913

Molecular consequence:

• NM_001177701.3:c.235-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363003.2:c.235-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006860.5:c.232-15G>A - intron variant - [Sequence Ontology: SO:0001627]