ClinVar

NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)

Gene:

SIN3A:SIN3 transcription regulator family member A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.2

Genomic location:

• Chr15: 75384434 (on Assembly GRCh38)
• Chr15: 75676775 (on Assembly GRCh37)

Preferred name:

NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)

Other names:

2498622

HGVS:

• NC_000015.10:g.75384434G>A
• NG_052855.1:g.76350C>T
• NM_001145357.2:c.3025C>T
• NM_001145358.2:c.3025C>TMANE SELECT
• NM_015477.3:c.3025C>T
• NP_001138829.1:p.Gln1009Ter
• NP_001138830.1:p.Gln1009Ter
• NP_056292.1:p.Gln1009Ter
• NC_000015.9:g.75676775G>A

This HGVS expression did not pass validation

Protein change:

Q1009*

Molecular consequence:

• NM_001145357.2:c.3025C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001145358.2:c.3025C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_015477.3:c.3025C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1