RGD:11623832 Rat Genome Database

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Variant: RGD:11623832 -  Homo sapiens

RGD ID: 11623832
RS ID: rs772399601
ClinVar ID: CV332449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,172,791
GRCh38 19 11,062,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.11062115C>T
NC_000019.9:g.11172791C>T
LRG_878t1:c.*299C>T
NM_001128845.2:c.*299C>T
More... 		01/01/2023 3 prime utr variant likely benign|uncertain significance Fifth digit syndrome; HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES; Mental retardation with absent fifth fingernail and terminal phalanx; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCA4
Accession:XM_047439249
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001128849
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439247
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001128844
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439243
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_011528198
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001387283
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439248
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001374457
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439246
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001128848
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_024451661
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001411150
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_024451658
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_024451667
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439250
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001128846
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439244
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001128847
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_024451663
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_001128845
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:NM_003072
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_006722846
Location:3UTRS;EXON

Gene Symbol:SMARCA4
Accession:XM_047439251
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000378073 CLINVAR
  RCV003422301 CLINVAR
dbSNP (RS) rs772399601 CLINVAR
MedGen C0265338 CLINVAR
  C3661900 CLINVAR
NCBI Gene SMARCA4 CLINVAR
OMIM 135900 CLINVAR
  603254 CLINVAR
SNOMED CT 10007009 CLINVAR