ClinVar

NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132921835 (on Assembly GRCh38)
• Chr9: 135797222 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)

HGVS:

• NC_000009.12:g.132921835A>G
• NG_012386.1:g.27799T>C
• NM_000368.5:c.647T>CMANE SELECT
• NM_001162426.2:c.647T>C
• NM_001162427.2:c.494T>C
• NM_001362177.2:c.284T>C
• NP_000359.1:p.Phe216Ser
• NP_000359.1:p.Phe216Ser
• NP_001155898.1:p.Phe216Ser
• NP_001155899.1:p.Phe165Ser
• NP_001349106.1:p.Phe95Ser
• LRG_486t1:c.647T>C
• LRG_486:g.27799T>C
• LRG_486p1:p.Phe216Ser
• NC_000009.11:g.135797222A>G
• NM_000368.3:c.647T>C
• NM_000368.4:c.647T>C
• p.(Phe216Ser)

This HGVS expression did not pass validation

Protein change:

F165S

Links:

Tuberous sclerosis database (TSC1): TSC1_00426; dbSNP: rs118203416

NCBI 1000 Genomes Browser:

rs118203416

Molecular consequence:

• NM_000368.5:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.494T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.284T>C - missense variant - [Sequence Ontology: SO:0001583]