ClinVar

NM_203293.3(TRIM7):c.677T>C (p.Phe226Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 181200023 (on Assembly GRCh38)
• Chr5: 180627023 (on Assembly GRCh37)

Preferred name:

NM_203293.3(TRIM7):c.677T>C (p.Phe226Ser)

HGVS:

• NC_000005.10:g.181200023A>G
• NG_029535.1:g.10155T>C
• NM_203293.3:c.677T>CMANE SELECT
• NM_203294.2:c.53T>C
• NM_203295.2:c.53T>C
• NM_203296.2:c.53T>C
• NM_203297.2:c.131T>C
• NP_976038.1:p.Phe226Ser
• NP_976039.1:p.Phe18Ser
• NP_976040.1:p.Phe18Ser
• NP_976041.1:p.Phe18Ser
• NP_976042.1:p.Phe44Ser
• NC_000005.9:g.180627023A>G
• NM_203293.1:c.677T>C

This HGVS expression did not pass validation

Protein change:

F18S

Molecular consequence:

• NM_203293.3:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_203294.2:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_203295.2:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_203296.2:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_203297.2:c.131T>C - missense variant - [Sequence Ontology: SO:0001583]