ClinVar

NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5576355 (on Assembly GRCh38)
• Chr4: 5578082 (on Assembly GRCh37)

Preferred name:

NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)

HGVS:

• NC_000004.12:g.5576355C>T
• NG_015821.1:g.138194G>A
• NM_001166136.2:c.2917G>A
• NM_147127.5:c.3157G>AMANE SELECT
• NP_001159608.1:p.Asp973Asn
• NP_667338.3:p.Asp1053Asn
• NC_000004.11:g.5578082C>T
• NM_147127.4:c.3157G>A

This HGVS expression did not pass validation

Protein change:

D1053N

Links:

dbSNP: rs746187559

NCBI 1000 Genomes Browser:

rs746187559

Molecular consequence:

• NM_001166136.2:c.2917G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147127.5:c.3157G>A - missense variant - [Sequence Ontology: SO:0001583]