ClinVar

NM_001330574.2(ZNF711):c.1897C>A (p.His633Asn)

Gene:

ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 85271301 (on Assembly GRCh38)
• ChrX: 84526307 (on Assembly GRCh37)

Preferred name:

NM_001330574.2(ZNF711):c.1897C>A (p.His633Asn)

HGVS:

• NC_000023.11:g.85271301C>A
• NG_012535.1:g.32311C>A
• NM_001330574.2:c.1897C>AMANE SELECT
• NM_001375431.1:c.1897C>A
• NM_001375432.1:c.1897C>A
• NM_001375433.1:c.1897C>A
• NM_001375434.1:c.1759C>A
• NM_001375435.1:c.1759C>A
• NM_001375436.1:c.1759C>A
• NM_001375437.1:c.1759C>A
• NM_021998.5:c.1759C>A
• NP_001317503.1:p.His633Asn
• NP_001362360.1:p.His633Asn
• NP_001362361.1:p.His633Asn
• NP_001362362.1:p.His633Asn
• NP_001362363.1:p.His587Asn
• NP_001362364.1:p.His587Asn
• NP_001362365.1:p.His587Asn
• NP_001362366.1:p.His587Asn
• NP_068838.3:p.His587Asn
• NC_000023.10:g.84526307C>A

This HGVS expression did not pass validation

Protein change:

H587N

Molecular consequence:

• NM_001330574.2:c.1897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375431.1:c.1897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375432.1:c.1897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375433.1:c.1897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375434.1:c.1759C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375435.1:c.1759C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375436.1:c.1759C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375437.1:c.1759C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021998.5:c.1759C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1