ClinVar

NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)

Gene:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5756339 (on Assembly GRCh38)
• Chr4: 5758066 (on Assembly GRCh37)

Preferred name:

NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)

HGVS:

• NC_000004.12:g.5756339G>A
• NG_008843.1:g.50143G>A
• NM_001306090.2:c.1540G>A
• NM_001306092.2:c.1540G>A
• NM_153717.3:c.1540G>AMANE SELECT
• NP_001293019.1:p.Glu514Lys
• NP_001293021.1:p.Glu514Lys
• NP_714928.1:p.Glu514Lys
• NC_000004.11:g.5758066G>A

This HGVS expression did not pass validation

Protein change:

E514K

Links:

dbSNP: rs141896077

NCBI 1000 Genomes Browser:

rs141896077

Molecular consequence:

• NM_001306090.2:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306092.2:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153717.3:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1