ClinVar

NM_153717.3(EVC):c.107C>G (p.Ala36Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5711487 (on Assembly GRCh38)
• Chr4: 5713214 (on Assembly GRCh37)

Preferred name:

NM_153717.3(EVC):c.107C>G (p.Ala36Gly)

HGVS:

• NC_000004.12:g.5711487C>G
• NG_008843.1:g.5291C>G
• NG_015821.1:g.3062G>C
• NM_001306090.2:c.107C>G
• NM_001306092.2:c.107C>G
• NM_153717.3:c.107C>GMANE SELECT
• NP_001293019.1:p.Ala36Gly
• NP_001293021.1:p.Ala36Gly
• NP_714928.1:p.Ala36Gly
• NC_000004.11:g.5713214C>G
• NM_153717.2:c.107C>G

This HGVS expression did not pass validation

Protein change:

A36G

Links:

dbSNP: rs1219807707

NCBI 1000 Genomes Browser:

rs1219807707

Molecular consequence:

• NM_001306090.2:c.107C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306092.2:c.107C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_153717.3:c.107C>G - missense variant - [Sequence Ontology: SO:0001583]