ClinVar

NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)

Genes:

RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

• Chr2: 108906347 (on Assembly GRCh38)
• Chr2: 109522803 (on Assembly GRCh37)

Preferred name:

NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)

HGVS:

• NC_000002.12:g.108906347T>A
• NG_008257.1:g.88026A>T
• NM_022336.4:c.985A>TMANE SELECT
• NP_071731.1:p.Ile329Phe
• NC_000002.11:g.109522803T>A
• NM_022336.3:c.985A>T

This HGVS expression did not pass validation

Protein change:

I329F

Links:

dbSNP: rs1553444917

NCBI 1000 Genomes Browser:

rs1553444917

Molecular consequence:

• NM_022336.4:c.985A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1