ClinVar

NM_005859.5(PURA):c.275G>C (p.Gly92Ala)

Gene:

PURA:purine rich element binding protein A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140114456 (on Assembly GRCh38)
• Chr5: 139494041 (on Assembly GRCh37)

Preferred name:

NM_005859.5(PURA):c.275G>C (p.Gly92Ala)

HGVS:

• NC_000005.10:g.140114456G>C
• NG_041813.1:g.5334G>C
• NM_005859.5:c.275G>CMANE SELECT
• NP_005850.1:p.Gly92Ala
• NC_000005.9:g.139494041G>C
• NC_000005.9:g.139494041G>C

This HGVS expression did not pass validation

Protein change:

G92A

Links:

dbSNP: rs2126748878

NCBI 1000 Genomes Browser:

rs2126748878

Molecular consequence:

• NM_005859.5:c.275G>C - missense variant - [Sequence Ontology: SO:0001583]