ClinVar

NM_017563.5(IL17RD):c.1843C>G (p.Pro615Ala)

Gene:

IL17RD:interleukin 17 receptor D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.3

Genomic location:

• Chr3: 57097860 (on Assembly GRCh38)
• Chr3: 57131888 (on Assembly GRCh37)

Preferred name:

NM_017563.5(IL17RD):c.1843C>G (p.Pro615Ala)

HGVS:

• NC_000003.12:g.57097860G>C
• NG_047158.1:g.77458C>G
• NM_001318864.2:c.1411C>G
• NM_017563.5:c.1843C>GMANE SELECT
• NP_001305793.1:p.Pro471Ala
• NP_060033.3:p.Pro615Ala
• NC_000003.11:g.57131888G>C

This HGVS expression did not pass validation

Protein change:

P471A

Links:

dbSNP: rs760291038

NCBI 1000 Genomes Browser:

rs760291038

Molecular consequence:

• NM_001318864.2:c.1411C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_017563.5:c.1843C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1