ClinVar

NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132911064 (on Assembly GRCh38)
• Chr9: 135786451 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)

HGVS:

• NC_000009.12:g.132911064G>T
• NG_012386.1:g.38570C>A
• NM_000368.5:c.1079C>AMANE SELECT
• NM_001162426.2:c.1079C>A
• NM_001162427.2:c.926C>A
• NM_001362177.2:c.716C>A
• NP_000359.1:p.Thr360Asn
• NP_000359.1:p.Thr360Asn
• NP_001155898.1:p.Thr360Asn
• NP_001155899.1:p.Thr309Asn
• NP_001349106.1:p.Thr239Asn
• LRG_486t1:c.1079C>A
• LRG_486:g.38570C>A
• LRG_486p1:p.Thr360Asn
• NC_000009.11:g.135786451G>T
• NM_000368.3:c.1079C>A
• NM_000368.4:c.1079C>A
• p.T360N
• p.(Thr360Asn)

This HGVS expression did not pass validation

Protein change:

T239N

Links:

Tuberous sclerosis database (TSC1): TSC1_00071; dbSNP: rs118203493

NCBI 1000 Genomes Browser:

rs118203493

Molecular consequence:

• NM_000368.5:c.1079C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.1079C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.926C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

182