ClinVar

NM_006515.4(SETMAR):c.1263C>T (p.Ile421=)

Genes:

SETMAR:SET domain and mariner transposase fusion gene [Gene - OMIM - HGNC]
SUMF1:sulfatase modifying factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p26.1

Genomic location:

• Chr3: 4316454 (on Assembly GRCh38)
• Chr3: 4358138 (on Assembly GRCh37)

Preferred name:

NM_006515.4(SETMAR):c.1263C>T (p.Ile421=)

HGVS:

• NC_000003.12:g.4316454C>T
• NG_016225.3:g.155815G>A
• NM_001243723.2:c.846C>T
• NM_001320676.2:c.429C>T
• NM_001320677.2:c.495C>T
• NM_001320678.2:c.399C>T
• NM_006515.4:c.1263C>TMANE SELECT
• NP_001230652.1:p.Ile282=
• NP_001307605.1:p.Ile143=
• NP_001307606.1:p.Ile165=
• NP_001307607.1:p.Ile133=
• NP_006506.3:p.Ile421=
• NC_000003.11:g.4358138C>T
• NR_075073.1:n.581C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001243723.2:c.846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320676.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320677.2:c.495C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320678.2:c.399C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006515.4:c.1263C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1