ClinVar

NM_001010879.4(ZIK1):c.1276C>T (p.Arg426Trp)

Gene:

ZIK1:zinc finger protein interacting with K protein 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.43

Genomic location:

• Chr19: 57591087 (on Assembly GRCh38)
• Chr19: 58102455 (on Assembly GRCh37)

Preferred name:

NM_001010879.4(ZIK1):c.1276C>T (p.Arg426Trp)

HGVS:

• NC_000019.10:g.57591087C>T
• NM_001010879.4:c.1276C>TMANE SELECT
• NM_001321145.2:c.1237C>T
• NM_001321146.2:c.1111C>T
• NM_001321147.2:c.967C>T
• NP_001010879.2:p.Arg426Trp
• NP_001308074.1:p.Arg413Trp
• NP_001308075.1:p.Arg371Trp
• NP_001308076.1:p.Arg323Trp
• NC_000019.9:g.58102455C>T
• NM_001010879.2:c.1276C>T

This HGVS expression did not pass validation

Protein change:

R323W

Molecular consequence:

• NM_001010879.4:c.1276C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321145.2:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321146.2:c.1111C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321147.2:c.967C>T - missense variant - [Sequence Ontology: SO:0001583]