ClinVar

NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)

Gene:

IFT52:intraflagellar transport 52 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 43613959 (on Assembly GRCh38)
• Chr20: 42242599 (on Assembly GRCh37)

Preferred name:

NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)

HGVS:

• NC_000020.11:g.43613959G>A
• NG_051913.1:g.28347G>A
• NM_001303458.3:c.595G>A
• NM_001303459.3:c.595G>A
• NM_001323578.2:c.67G>A
• NM_001323579.2:c.-170G>A
• NM_001323580.2:c.67G>A
• NM_001323581.2:c.-170G>A
• NM_016004.5:c.595G>AMANE SELECT
• NP_001290387.1:p.Ala199Thr
• NP_001290388.1:p.Ala199Thr
• NP_001310507.1:p.Ala23Thr
• NP_001310509.1:p.Ala23Thr
• NP_057088.2:p.Ala199Thr
• NC_000020.10:g.42242599G>A
• NM_001303458.1:c.595G>A
• NM_016004.4:c.595G>A

This HGVS expression did not pass validation

Protein change:

A199T; ALA199THR

Links:

OMIM: 617094.0003; dbSNP: rs886037869

NCBI 1000 Genomes Browser:

rs886037869

Molecular consequence:

• NM_001323579.2:c.-170G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323581.2:c.-170G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001303458.3:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303459.3:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323578.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323580.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016004.5:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]