ClinVar

NM_000368.5(TSC1):c.634_635del (p.Asn212fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132921847 - 132921848 (on Assembly GRCh38)
• Chr9: 135797234 - 135797235 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.634_635del (p.Asn212fs)

HGVS:

• NC_000009.12:g.132921849_132921850del
• NG_012386.1:g.27786_27787del
• NM_000368.5:c.634_635delMANE SELECT
• NM_001162426.2:c.634_635del
• NM_001162427.2:c.481_482del
• NM_001362177.2:c.271_272del
• NP_000359.1:p.Asn212fs
• NP_001155898.1:p.Asn212fs
• NP_001155899.1:p.Asn161fs
• NP_001349106.1:p.Asn91fs
• LRG_486:g.27786_27787del
• NC_000009.11:g.135797236_135797237del
• NM_000368.5:c.634_635delAAMANE SELECT

This HGVS expression did not pass validation

Protein change:

N161fs

Links:

dbSNP: rs1846577619

NCBI 1000 Genomes Browser:

rs1846577619

Molecular consequence:

• NM_000368.5:c.634_635del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001162426.2:c.634_635del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001162427.2:c.481_482del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001362177.2:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2