ClinVar

NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)

Gene:

WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p14

Genomic location:

• Chr4: 39274945 (on Assembly GRCh38)
• Chr4: 39276565 (on Assembly GRCh37)

Preferred name:

NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)

HGVS:

• NC_000004.12:g.39274945G>A
• NG_031813.1:g.97542G>A
• NM_001317924.2:c.3223G>A
• NM_025132.4:c.3703G>AMANE SELECT
• NP_001304853.1:p.Glu1075Lys
• NP_079408.3:p.Glu1235Lys
• NC_000004.11:g.39276565G>A
• NM_025132.3:c.3703G>A
• Q8NEZ3:p.Glu1235Lys

This HGVS expression did not pass validation

Protein change:

E1075K; GLU1235LYS

Links:

UniProtKB: Q8NEZ3#VAR_073679; OMIM: 608151.0009; dbSNP: rs587777351

NCBI 1000 Genomes Browser:

rs587777351

Molecular consequence:

• NM_001317924.2:c.3223G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_025132.4:c.3703G>A - missense variant - [Sequence Ontology: SO:0001583]