ClinVar

NM_020750.3(XPO5):c.3447A>T (p.Gln1149His)

Genes:

POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]
XPO5:exportin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43524501 (on Assembly GRCh38)
• Chr6: 43492239 (on Assembly GRCh37)

Preferred name:

NM_020750.3(XPO5):c.3447A>T (p.Gln1149His)

HGVS:

• NC_000006.12:g.43524501T>A
• NG_028283.3:g.19800T>A
• NG_028283.4:g.12414T>A
• NG_051658.1:g.56575A>T
• NM_001318876.2:c.922+3453T>A
• NM_001363658.2:c.922+3453T>A
• NM_020750.3:c.3447A>TMANE SELECT
• NP_065801.1:p.Gln1149His
• NC_000006.11:g.43492239T>A
• NM_020750.2:c.3447A>T
• NR_144392.2:n.3759A>T

This HGVS expression did not pass validation

Protein change:

Q1149H

Links:

dbSNP: rs200787086

NCBI 1000 Genomes Browser:

rs200787086

Molecular consequence:

• NM_001318876.2:c.922+3453T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363658.2:c.922+3453T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020750.3:c.3447A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_144392.2:n.3759A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]