ClinVar

NM_006515.4(SETMAR):c.922G>A (p.Val308Ile)

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: 4313663 (on Assembly GRCh38)
• Chr3: 4355347 (on Assembly GRCh37)

Preferred name:

NM_006515.4(SETMAR):c.922G>A (p.Val308Ile)

HGVS:

• NC_000003.12:g.4313663G>A
• NG_016225.3:g.158606C>T
• NM_001243723.2:c.505G>A
• NM_001276325.2:c.922G>A
• NM_001320676.2:c.88G>A
• NM_001320677.2:c.158-4G>A
• NM_001320678.2:c.157-2549G>A
• NM_006515.4:c.922G>AMANE SELECT
• NP_001230652.1:p.Val169Ile
• NP_001263254.1:p.Val308Ile
• NP_001307605.1:p.Val30Ile
• NP_006506.3:p.Val308Ile
• NC_000003.11:g.4355347G>A
• NM_006515.3:c.922G>A
• NR_075073.1:n.240G>A

This HGVS expression did not pass validation

Protein change:

V169I

Molecular consequence:

• NM_001320677.2:c.158-4G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320678.2:c.157-2549G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243723.2:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276325.2:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320676.2:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006515.4:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]