ClinVar

NM_001282201.2(ZNF630):c.497C>A (p.Thr166Lys)

Genes:

ZNF630-AS1:ZNF630 antisense RNA 1 [Gene - HGNC]
ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48059945 (on Assembly GRCh38)
• ChrX: 47919334 (on Assembly GRCh37)

Preferred name:

NM_001282201.2(ZNF630):c.497C>A (p.Thr166Lys)

HGVS:

• NC_000023.11:g.48059945G>T
• NG_022889.2:g.16688C>A
• NM_001037735.4:c.497C>A
• NM_001190255.3:c.455C>A
• NM_001282201.2:c.497C>AMANE SELECT
• NM_001282202.3:c.125C>A
• NP_001032824.2:p.Thr166Lys
• NP_001177184.1:p.Thr152Lys
• NP_001269130.1:p.Thr166Lys
• NP_001269131.1:p.Thr42Lys
• NC_000023.10:g.47919334G>T
• NM_001037735.2:c.497C>A
• NR_033730.1:n.1064C>A

This HGVS expression did not pass validation

Protein change:

T152K

Molecular consequence:

• NM_001037735.4:c.497C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190255.3:c.455C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282201.2:c.497C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282202.3:c.125C>A - missense variant - [Sequence Ontology: SO:0001583]