NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)Rat Genome Database
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Variant : CV223059 (NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)) Homo sapiens

Symbol: CV223059
Name: NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)
RGD ID: 11039586
Condition: Ductal breast carcinoma [RCV000207247]
Clinical Significance: uncertain significance
Last Evaluated: 07/20/2015
Review Status: no assertion criteria provided
Related Genes: SPEN  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_015001.3:c.6999_7014del
NG_050663.1:g.90376_90391del
NC_000001.10:g.16259732_16259747del
NC_000001.11:g.15933239_15933254del
NC_000001.10:g.16259734_16259749del
NP_055816.2:p.Gln2333fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38115,933,237 - 15,933,252CLINVAR
GRCh37116,259,732 - 16,259,747CLINVAR
Cytogenetic Map11p36.13CLINVAR
Trait Synonyms: Breast cancer, invasive ductal



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations

Additional Information

Database Acc Id Source(s)
ClinVar RCV000207247 CLINVAR
dbSNP (RS) rs869312174 CLINVAR
MedGen C1527349 CLINVAR
NCBI Gene SPEN CLINVAR
OMIM 613484 CLINVAR