ClinVar

NM_203293.3(TRIM7):c.981G>T (p.Lys327Asn)

Gene:

TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 181198697 (on Assembly GRCh38)
• Chr5: 180625697 (on Assembly GRCh37)

Preferred name:

NM_203293.3(TRIM7):c.981G>T (p.Lys327Asn)

HGVS:

• NC_000005.10:g.181198697C>A
• NG_029535.1:g.11481G>T
• NM_203293.3:c.981G>TMANE SELECT
• NM_203294.2:c.357G>T
• NM_203295.2:c.357G>T
• NM_203296.2:c.357G>T
• NM_203297.2:c.435G>T
• NP_976038.1:p.Lys327Asn
• NP_976039.1:p.Lys119Asn
• NP_976040.1:p.Lys119Asn
• NP_976041.1:p.Lys119Asn
• NP_976042.1:p.Lys145Asn
• NC_000005.9:g.180625697C>A
• NM_203293.1:c.981G>T

This HGVS expression did not pass validation

Protein change:

K119N

Molecular consequence:

• NM_203293.3:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203294.2:c.357G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203295.2:c.357G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203296.2:c.357G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203297.2:c.435G>T - missense variant - [Sequence Ontology: SO:0001583]