ClinVar

NM_153717.3(EVC):c.2412C>T (p.His804=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5802057 (on Assembly GRCh38)
• Chr4: 5803784 (on Assembly GRCh37)

Preferred name:

NM_153717.3(EVC):c.2412C>T (p.His804=)

HGVS:

• NC_000004.12:g.5802057C>T
• NG_008843.1:g.95861C>T
• NM_001306090.2:c.2412C>T
• NM_153717.3:c.2412C>TMANE SELECT
• NP_001293019.1:p.His804=
• NP_714928.1:p.His804=
• NC_000004.11:g.5803784C>T
• NM_153717.2:c.2412C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs553232598

NCBI 1000 Genomes Browser:

rs553232598

Molecular consequence:

• NM_001306090.2:c.2412C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153717.3:c.2412C>T - synonymous variant - [Sequence Ontology: SO:0001819]