ClinVar

NM_021783.5(EDA2R):c.135T>A (p.Pro45=)

Gene:

EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 66605179 (on Assembly GRCh38)
• ChrX: 65825021 (on Assembly GRCh37)

Preferred name:

NM_021783.5(EDA2R):c.135T>A (p.Pro45=)

HGVS:

• NC_000023.11:g.66605179A>T
• NG_013271.2:g.39088T>A
• NM_001199687.3:c.135T>A
• NM_001242310.1:c.135T>A
• NM_001324199.2:c.72-2382T>A
• NM_001324201.2:c.119T>A
• NM_001324202.2:c.72-2382T>A
• NM_001324204.2:c.56-2382T>A
• NM_001324205.2:c.56-2382T>A
• NM_001324206.2:c.135T>A
• NM_021783.5:c.135T>AMANE SELECT
• NP_001186616.2:p.Pro45=
• NP_001229239.1:p.Pro45=
• NP_001311130.2:p.Leu40His
• NP_001311135.2:p.Pro45=
• NP_068555.2:p.Pro45=
• NC_000023.10:g.65825021A>T
• NM_021783.4:c.135T>A
• NR_136726.2:n.214T>A
• NR_136727.2:n.229T>A

This HGVS expression did not pass validation

Protein change:

L40H

Links:

dbSNP: rs752010334

NCBI 1000 Genomes Browser:

rs752010334

Molecular consequence:

• NM_001324199.2:c.72-2382T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324202.2:c.72-2382T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324204.2:c.56-2382T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324205.2:c.56-2382T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001324201.2:c.119T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136726.2:n.214T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136727.2:n.229T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199687.3:c.135T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242310.1:c.135T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324206.2:c.135T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021783.5:c.135T>A - synonymous variant - [Sequence Ontology: SO:0001819]