ClinVar

NM_000368.5(TSC1):c.1677C>T (p.Cys559=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132905901 (on Assembly GRCh38)
• Chr9: 135781288 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.1677C>T (p.Cys559=)

HGVS:

• NC_000009.12:g.132905901G>A
• NG_012386.1:g.43733C>T
• NM_000368.5:c.1677C>TMANE SELECT
• NM_001162426.2:c.1674C>T
• NM_001162427.2:c.1524C>T
• NM_001362177.2:c.1314C>T
• NP_000359.1:p.Cys559=
• NP_000359.1:p.Cys559=
• NP_001155898.1:p.Cys558=
• NP_001155899.1:p.Cys508=
• NP_001349106.1:p.Cys438=
• LRG_486t1:c.1677C>T
• LRG_486:g.43733C>T
• LRG_486p1:p.Cys559=
• NC_000009.11:g.135781288G>A
• NM_000368.4:c.1677C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368317116

NCBI 1000 Genomes Browser:

rs368317116

Molecular consequence:

• NM_000368.5:c.1677C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162426.2:c.1674C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162427.2:c.1524C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362177.2:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]