ClinVar

NM_080425.4(GNAS):c.2069-4915C>T

Genes:

LOC130066266:ATAC-STARR-seq lymphoblastoid silent region 13081 [Gene]
GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58890697 (on Assembly GRCh38)
• Chr20: 57465752 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.2069-4915C>T

HGVS:

• NC_000020.11:g.58890697C>T
• NG_016194.2:g.55958C>T
• NG_200683.1:g.119C>T
• NM_001077490.3:c.*1-4915C>T
• NM_001309840.2:c.-39+1344C>T
• NM_001309861.2:c.-38-4915C>T
• NM_001309883.1:c.*159-4915C>T
• NM_001410912.1:c.44-4915C>T
• NM_001410913.1:c.2069-4915C>T
• NM_016592.5:c.*43-4915C>T
• NM_080425.4:c.2069-4915C>T
• NC_000020.10:g.57465752C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001077490.3:c.*1-4915C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001309840.2:c.-39+1344C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001309861.2:c.-38-4915C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001309883.1:c.*159-4915C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.44-4915C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410913.1:c.2069-4915C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*43-4915C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_080425.4:c.2069-4915C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1