ClinVar

NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu)

Genes:

LOC130066894:ATAC-STARR-seq lymphoblastoid silent region 13430 [Gene]
IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.1

Genomic location:

• Chr22: 17085111 (on Assembly GRCh38)
• Chr22: 17566001 (on Assembly GRCh37)

Preferred name:

NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu)

HGVS:

• NC_000022.11:g.17085111C>T
• NG_028257.1:g.5151C>T
• NM_001289905.2:c.20C>T
• NM_014339.7:c.20C>TMANE SELECT
• NP_001276834.1:p.Pro7Leu
• NP_055154.3:p.Pro7Leu
• NP_055154.3:p.Pro7Leu
• LRG_355t1:c.20C>T
• LRG_355:g.5151C>T
• LRG_355p1:p.Pro7Leu
• NC_000022.10:g.17566001C>T
• NM_014339.6:c.20C>T

This HGVS expression did not pass validation

Protein change:

P7L

Links:

dbSNP: rs143652002

NCBI 1000 Genomes Browser:

rs143652002

Molecular consequence:

• NM_001289905.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014339.7:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]