ClinVar

NM_000368.5(TSC1):c.615T>C (p.Ser205=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132921867 (on Assembly GRCh38)
• Chr9: 135797254 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.615T>C (p.Ser205=)

HGVS:

• NC_000009.12:g.132921867A>G
• NG_012386.1:g.27767T>C
• NM_000368.5:c.615T>CMANE SELECT
• NM_001162426.2:c.615T>C
• NM_001162427.2:c.462T>C
• NM_001362177.2:c.252T>C
• NP_000359.1:p.Ser205=
• NP_000359.1:p.Ser205=
• NP_001155898.1:p.Ser205=
• NP_001155899.1:p.Ser154=
• NP_001349106.1:p.Ser84=
• LRG_486t1:c.615T>C
• LRG_486:g.27767T>C
• LRG_486p1:p.Ser205=
• NC_000009.11:g.135797254A>G
• NM_000368.3:c.615T>C
• NM_000368.4:c.615T>C
• p.S205S
• p.(=)

This HGVS expression did not pass validation

Links:

Tuberous sclerosis database (TSC1): TSC1_00242; dbSNP: rs118203414

NCBI 1000 Genomes Browser:

rs118203414

Molecular consequence:

• NM_000368.5:c.615T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162426.2:c.615T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162427.2:c.462T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362177.2:c.252T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

14