ClinVar

NM_001113491.2(SEPTIN9):c.364G>C (p.Ala122Pro)

Gene:

SEPTIN9:septin 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 77402346 (on Assembly GRCh38)
• Chr17: 75398428 (on Assembly GRCh37)

Preferred name:

NM_001113491.2(SEPTIN9):c.364G>C (p.Ala122Pro)

HGVS:

• NC_000017.11:g.77402346G>C
• NG_011683.2:g.125937G>C
• NM_001113491.2:c.364G>CMANE SELECT
• NM_001113492.2:c.-129G>C
• NM_001113493.2:c.343G>C
• NM_001113494.1:c.-129G>C
• NM_001293695.2:c.307G>C
• NM_006640.5:c.310G>C
• NP_001106963.1:p.Ala122Pro
• NP_001106965.1:p.Ala115Pro
• NP_001280624.1:p.Ala103Pro
• NP_006631.2:p.Ala104Pro
• LRG_370t1:c.310G>C
• LRG_370t2:c.364G>C
• LRG_370:g.125937G>C
• LRG_370p1:p.Ala104Pro
• LRG_370p2:p.Ala122Pro
• NC_000017.10:g.75398428G>C

This HGVS expression did not pass validation

Protein change:

A103P

Molecular consequence:

• NM_001113492.2:c.-129G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001113494.1:c.-129G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001113491.2:c.364G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001113493.2:c.343G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293695.2:c.307G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006640.5:c.310G>C - missense variant - [Sequence Ontology: SO:0001583]