ClinVar

NM_002802.3(PSMC1):c.703T>A (p.Leu235Ile)

Genes:

NRDE2:NRDE-2, necessary for RNA interference, domain containing [Gene - OMIM - HGNC]
PSMC1:proteasome 26S subunit, ATPase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

• Chr14: 90268235 (on Assembly GRCh38)
• Chr14: 90734579 (on Assembly GRCh37)

Preferred name:

NM_002802.3(PSMC1):c.703T>A (p.Leu235Ile)

HGVS:

• NC_000014.9:g.90268235T>A
• NG_046999.2:g.16684T>A
• NM_001330212.2:c.484T>A
• NM_002802.3:c.703T>AMANE SELECT
• NM_017970.4:c.*10101A>TMANE SELECT
• NP_001317141.1:p.Leu162Ile
• NP_002793.2:p.Leu235Ile
• NC_000014.8:g.90734579T>A
• NG_046999.1:g.16686T>A
• NM_002802.2:c.703T>A

This HGVS expression did not pass validation

Protein change:

L162I

Molecular consequence:

• NM_017970.4:c.*10101A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330212.2:c.484T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002802.3:c.703T>A - missense variant - [Sequence Ontology: SO:0001583]