RGD:11619140 Rat Genome Database

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Variant: RGD:11619140 -  Homo sapiens

RGD ID: 11619140
RS ID: rs767575401
ClinVar ID: CV332432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,096,090
GRCh38 19 10,985,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000019.10:g.10985414C>T
NC_000019.9:g.11096090C>T
NM_001128844.3:c.355+9C>T
NM_001128845.2:c.355+9C>T
More... 		02/03/2019 intron variant benign|likely benign|uncertain significance <1 / 1 000 000 COFFIN-SIRIS SYNDROME 4; Fifth digit syndrome; HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES; Mental retardation with absent fifth fingernail and terminal phalanx
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCA4
Accession:XM_047439244
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451667
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001387283
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128847
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001411150
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001374457
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_011528198
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128849
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_003072
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128846
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439251
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451661
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439250
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439243
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128848
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451663
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439249
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439247
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439248
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451658
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128845
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_006722846
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128844
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439246
Location:INTRON

Gene Symbol:SMARCA4
Accession:NR_164683
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000321539 CLINVAR
  RCV000475648 CLINVAR
  RCV001808751 CLINVAR
dbSNP (RS) rs767575401 CLINVAR
MedGen C0265338 CLINVAR
  C2750074 CLINVAR
  C3553249 CLINVAR
NCBI Gene SMARCA4 CLINVAR
OMIM 135900 CLINVAR
  603254 CLINVAR
  613325 CLINVAR
  614609 CLINVAR
SNOMED CT 10007009 CLINVAR