ClinVar

NM_020750.3(XPO5):c.3286C>T (p.Leu1096=)

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: 43524857 (on Assembly GRCh38)
• Chr6: 43492595 (on Assembly GRCh37)

Preferred name:

NM_020750.3(XPO5):c.3286C>T (p.Leu1096=)

HGVS:

• NC_000006.12:g.43524857G>A
• NG_028283.3:g.20156G>A
• NG_028283.4:g.12770G>A
• NG_051658.1:g.56219C>T
• NM_001318876.2:c.922+3809G>A
• NM_001363658.2:c.922+3809G>A
• NM_020750.3:c.3286C>TMANE SELECT
• NP_065801.1:p.Leu1096=
• NC_000006.11:g.43492595G>A
• NR_144392.2:n.3598C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001318876.2:c.922+3809G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363658.2:c.922+3809G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_144392.2:n.3598C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_020750.3:c.3286C>T - synonymous variant - [Sequence Ontology: SO:0001819]