ClinVar

NM_001177701.3(IFT27):c.459C>T (p.Ser153=)

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: 36762907 (on Assembly GRCh38)
• Chr22: 37158951 (on Assembly GRCh37)

Preferred name:

NM_001177701.3(IFT27):c.459C>T (p.Ser153=)

HGVS:

• NC_000022.11:g.36762907G>A
• NG_034205.1:g.18227C>T
• NM_001177701.3:c.459C>TMANE SELECT
• NM_001363003.2:c.459C>T
• NM_006860.4:c.456C>T
• NM_006860.5:c.456C>T
• NP_001171172.1:p.Ser153=
• NP_001349932.1:p.Ser153=
• NP_006851.1:p.Ser152=
• NC_000022.10:g.37158951G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs745713301

NCBI 1000 Genomes Browser:

rs745713301

Molecular consequence:

• NM_001177701.3:c.459C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363003.2:c.459C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006860.5:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]