ClinVar

NM_001136273.2(ZFP92):c.182A>T (p.His61Leu)

Gene:

ZFP92:ZFP92 zinc finger protein [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153420249 (on Assembly GRCh38)
• ChrX: 152685707 (on Assembly GRCh37)

Preferred name:

NM_001136273.2(ZFP92):c.182A>T (p.His61Leu)

HGVS:

• NC_000023.11:g.153420249A>T
• NM_001136273.2:c.182A>TMANE SELECT
• NM_001386943.1:c.56A>T
• NM_001386944.1:c.182A>T
• NM_001386945.1:c.182A>T
• NP_001129745.1:p.His61Leu
• NP_001373872.1:p.His19Leu
• NP_001373873.1:p.His61Leu
• NP_001373874.1:p.His61Leu
• NC_000023.10:g.152685707A>T
• NM_001136273.1:c.182A>T

This HGVS expression did not pass validation

Protein change:

H19L

Molecular consequence:

• NM_001136273.2:c.182A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386943.1:c.56A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386944.1:c.182A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386945.1:c.182A>T - missense variant - [Sequence Ontology: SO:0001583]