ClinVar

NM_001113491.2(SEPTIN9):c.1574-10C>T

Gene:

SEPTIN9:septin 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 77497305 (on Assembly GRCh38)
• Chr17: 75493387 (on Assembly GRCh37)

Preferred name:

NM_001113491.2(SEPTIN9):c.1574-10C>T

HGVS:

• NC_000017.11:g.77497305C>T
• NG_011683.2:g.220896C>T
• NM_001113491.2:c.1574-10C>TMANE SELECT
• NM_001113492.2:c.1082-10C>T
• NM_001113493.2:c.1553-10C>T
• NM_001113494.1:c.1082-10C>T
• NM_001113495.2:c.821-10C>T
• NM_001113496.2:c.821-10C>T
• NM_001293695.2:c.1517-10C>T
• NM_001293696.2:c.902-10C>T
• NM_001293697.2:c.821-10C>T
• NM_001293698.2:c.821-10C>T
• NM_006640.5:c.1520-10C>T
• LRG_370t1:c.1520-10C>T
• LRG_370t2:c.1574-10C>T
• LRG_370:g.220896C>T
• NC_000017.10:g.75493387C>T
• NG_011683.1:g.220896C>T
• NM_001113491.1:c.1574-10C>T
• NM_006640.4:c.1520-10C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs192537441

NCBI 1000 Genomes Browser:

rs192537441

Molecular consequence:

• NM_001113491.2:c.1574-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113492.2:c.1082-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113493.2:c.1553-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113494.1:c.1082-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113495.2:c.821-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113496.2:c.821-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293695.2:c.1517-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293696.2:c.902-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293697.2:c.821-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293698.2:c.821-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006640.5:c.1520-10C>T - intron variant - [Sequence Ontology: SO:0001627]