ClinVar

NM_001399.5(EDA):c.826C>T (p.Arg276Cys)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 70033430 (on Assembly GRCh38)
• ChrX: 69253280 (on Assembly GRCh37)

Preferred name:

NM_001399.5(EDA):c.826C>T (p.Arg276Cys)

HGVS:

• NC_000023.11:g.70033430C>T
• NG_009809.2:g.422364C>T
• NM_001005609.2:c.826C>T
• NM_001005612.3:c.817C>T
• NM_001399.5:c.826C>TMANE SELECT
• NP_001005609.1:p.Arg276Cys
• NP_001005612.2:p.Arg273Cys
• NP_001390.1:p.Arg276Cys
• NC_000023.10:g.69253280C>T
• NM_001399.4:c.826C>T

This HGVS expression did not pass validation

Protein change:

R273C; ARG276CYS

Links:

OMIM: 300451.0019; dbSNP: rs387907197

NCBI 1000 Genomes Browser:

rs387907197

Molecular consequence:

• NM_001005609.2:c.826C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005612.3:c.817C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001399.5:c.826C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1