ClinVar

NM_147127.5(EVC2):c.2517A>G (p.Ser839=)

Gene:

EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5618667 (on Assembly GRCh38)
• Chr4: 5620394 (on Assembly GRCh37)

Preferred name:

NM_147127.5(EVC2):c.2517A>G (p.Ser839=)

HGVS:

• NC_000004.12:g.5618667T>C
• NG_015821.1:g.95882A>G
• NM_001166136.2:c.2277A>G
• NM_147127.5:c.2517A>GMANE SELECT
• NP_001159608.1:p.Ser759=
• NP_667338.3:p.Ser839=
• NC_000004.11:g.5620394T>C
• NM_147127.4:c.2517A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs756424912

NCBI 1000 Genomes Browser:

rs756424912

Molecular consequence:

• NM_001166136.2:c.2277A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_147127.5:c.2517A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1