ClinVar

NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5783640 (on Assembly GRCh38)
• Chr4: 5785367 (on Assembly GRCh37)

Preferred name:

NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)

HGVS:

• NC_000004.12:g.5783640C>T
• NG_008843.1:g.77444C>T
• NM_001306090.2:c.1652C>T
• NM_153717.3:c.1652C>TMANE SELECT
• NP_001293019.1:p.Pro551Leu
• NP_714928.1:p.Pro551Leu
• NC_000004.11:g.5785367C>T
• NM_153717.2:c.1652C>T

This HGVS expression did not pass validation

Protein change:

P551L

Links:

dbSNP: rs371682994

NCBI 1000 Genomes Browser:

rs371682994

Molecular consequence:

• NM_001306090.2:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153717.3:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1