ClinVar

NM_003599.4(SUPT3H):c.343G>A (p.Asp115Asn)

Gene:

SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 45014822 (on Assembly GRCh38)
• Chr6: 44982559 (on Assembly GRCh37)

Preferred name:

NM_003599.4(SUPT3H):c.343G>A (p.Asp115Asn)

HGVS:

• NC_000006.12:g.45014822C>T
• NM_001261823.2:c.-93+5724G>A
• NM_001350324.2:c.343G>A
• NM_001350325.2:c.337G>A
• NM_001350326.2:c.280G>A
• NM_001350327.2:c.85G>A
• NM_001350329.2:c.343G>A
• NM_003599.4:c.343G>AMANE SELECT
• NM_181356.3:c.376G>A
• NP_001337253.1:p.Asp115Asn
• NP_001337254.1:p.Asp113Asn
• NP_001337255.1:p.Asp94Asn
• NP_001337256.1:p.Asp29Asn
• NP_001337258.1:p.Asp115Asn
• NP_003590.1:p.Asp115Asn
• NP_852001.1:p.Asp126Asn
• NC_000006.11:g.44982559C>T
• NM_181356.1:c.376G>A
• NR_146632.2:n.510G>A
• NR_146633.1:n.502G>A
• NR_146634.2:n.496G>A
• NR_146635.2:n.502G>A

This HGVS expression did not pass validation

Protein change:

D113N

Molecular consequence:

• NM_001261823.2:c.-93+5724G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350324.2:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350325.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350326.2:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350327.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350329.2:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003599.4:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181356.3:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146632.2:n.510G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146633.1:n.502G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146634.2:n.496G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146635.2:n.502G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]