ClinVar

NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)

Genes:

IFT172:intraflagellar transport 172 [Gene - OMIM - HGNC]
KRTCAP3:keratinocyte associated protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 27444495 (on Assembly GRCh38)
• Chr2: 27667362 (on Assembly GRCh37)

Preferred name:

NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)

HGVS:

• NC_000002.12:g.27444495G>A
• NG_034068.1:g.50317C>T
• NM_001168364.2:c.*5+434G>A
• NM_001410739.1:c.5121C>T
• NM_015662.3:c.5187C>TMANE SELECT
• NP_001397668.1:p.Asp1707=
• NP_056477.1:p.Asp1729=
• NC_000002.11:g.27667362G>A
• NM_015662.2:c.5187C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143671920

NCBI 1000 Genomes Browser:

rs143671920

Molecular consequence:

• NM_001168364.2:c.*5+434G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410739.1:c.5121C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015662.3:c.5187C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1