ClinVar

NM_171982.5(TRIM35):c.1238C>T (p.Ser413Leu)

Gene:

TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27287794 (on Assembly GRCh38)
• Chr8: 27145311 (on Assembly GRCh37)

Preferred name:

NM_171982.5(TRIM35):c.1238C>T (p.Ser413Leu)

HGVS:

• NC_000008.11:g.27287794G>A
• NM_001304495.2:c.*318C>T
• NM_001362813.2:c.*318C>T
• NM_015066.2:c.1238C>T
• NM_171982.5:c.1238C>TMANE SELECT
• NP_055881.1:p.Ser413Leu
• NP_741983.2:p.Ser413Leu
• NC_000008.10:g.27145311G>A
• NM_171982.3:c.1238C>T

This HGVS expression did not pass validation

Protein change:

S413L

Molecular consequence:

• NM_001304495.2:c.*318C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001362813.2:c.*318C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015066.2:c.1238C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_171982.5:c.1238C>T - missense variant - [Sequence Ontology: SO:0001583]