ClinVar

NM_000368.5(TSC1):c.671T>G (p.Met224Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132921429 (on Assembly GRCh38)
• Chr9: 135796816 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.671T>G (p.Met224Arg)

HGVS:

• NC_000009.12:g.132921429A>C
• NG_012386.1:g.28205T>G
• NM_000368.5:c.671T>GMANE SELECT
• NM_001162426.2:c.671T>G
• NM_001162427.2:c.518T>G
• NM_001362177.2:c.308T>G
• NP_000359.1:p.Met224Arg
• NP_000359.1:p.Met224Arg
• NP_001155898.1:p.Met224Arg
• NP_001155899.1:p.Met173Arg
• NP_001349106.1:p.Met103Arg
• LRG_486t1:c.671T>G
• LRG_486:g.28205T>G
• LRG_486p1:p.Met224Arg
• NC_000009.11:g.135796816A>C
• NM_000368.3:c.671T>G
• NM_000368.4:c.671T>G
• Q92574:p.Met224Arg
• p.(Met224Arg)

This HGVS expression did not pass validation

Protein change:

M103R; MET224ARG

Links:

Tuberous sclerosis database (TSC1): TSC1_00036; UniProtKB: Q92574#VAR_009401; OMIM: 605284.0008; dbSNP: rs118203426

NCBI 1000 Genomes Browser:

rs118203426

Molecular consequence:

• NM_000368.5:c.671T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.671T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.518T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.308T>G - missense variant - [Sequence Ontology: SO:0001583]