ClinVar

NM_021783.5(EDA2R):c.22T>C (p.Tyr8His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 66615999 (on Assembly GRCh38)
• ChrX: 65835841 (on Assembly GRCh37)

Preferred name:

NM_021783.5(EDA2R):c.22T>C (p.Tyr8His)

HGVS:

• NC_000023.11:g.66615999A>G
• NG_013271.2:g.28268T>C
• NM_001199687.3:c.22T>C
• NM_001242310.1:c.22T>C
• NM_001324199.2:c.6T>C
• NM_001324201.2:c.6T>C
• NM_001324202.2:c.6T>C
• NM_001324204.2:c.-11T>C
• NM_001324205.2:c.-11T>C
• NM_001324206.2:c.22T>C
• NM_021783.5:c.22T>CMANE SELECT
• NP_001186616.2:p.Tyr8His
• NP_001229239.1:p.Tyr8His
• NP_001311128.2:p.Ser2=
• NP_001311130.2:p.Ser2=
• NP_001311131.2:p.Ser2=
• NP_001311135.2:p.Tyr8His
• NP_068555.2:p.Tyr8His
• NC_000023.10:g.65835841A>G
• NM_021783.4:c.22T>C
• NR_136726.2:n.101T>C
• NR_136727.2:n.116T>C

This HGVS expression did not pass validation

Protein change:

Y8H

Links:

dbSNP: rs73221529

NCBI 1000 Genomes Browser:

rs73221529

Molecular consequence:

• NM_001324204.2:c.-11T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001324205.2:c.-11T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001199687.3:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242310.1:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324206.2:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_021783.5:c.22T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_136726.2:n.101T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136727.2:n.116T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001324199.2:c.6T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324201.2:c.6T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324202.2:c.6T>C - synonymous variant - [Sequence Ontology: SO:0001819]