ClinVar

NM_030930.4(UNC93B1):c.547A>G (p.Ile183Val)

Gene:

UNC93B1:unc-93 homolog B1, TLR signaling regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67999526 (on Assembly GRCh38)
• Chr11: 67766996 (on Assembly GRCh37)

Preferred name:

NM_030930.4(UNC93B1):c.547A>G (p.Ile183Val)

HGVS:

• NC_000011.10:g.67999526T>C
• NG_007581.1:g.9598A>G
• NM_030930.4:c.547A>GMANE SELECT
• NP_112192.2:p.Ile183Val
• NP_112192.2:p.Ile183Val
• LRG_123t1:c.547A>G
• LRG_123:g.9598A>G
• LRG_123p1:p.Ile183Val
• NC_000011.9:g.67766996T>C
• NM_030930.2:c.547A>G

This HGVS expression did not pass validation

Protein change:

I183V

Molecular consequence:

• NM_030930.4:c.547A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1