rs568082272 Rat Genome Database

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Variant: rs568082272 -  Homo sapiens

RGD ID: 38475421
RS ID: rs568082272
ClinVar ID: CV940711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC7A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,238,469
GRCh38 2 47,011,330
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1323t1:c.1288-1G>T
NM_001288953.2:c.1186-1G>T
NM_001288951.2:c.1288-1G>T
NM_020458.4:c.1288-1G>T
More... 		05/21/2020 splice acceptor variant pathogenic|likely pathogenic Combined immunodeficiency-enteropathy spectrum; Familial intestinal polyatresia syndrome; Multiple intestinal atresia
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV940711Humanmultiple intestinal atresia  IAGP 8554872ClinVar Annotator: match by term: Multiple gastrointestinal atresiasClinVarPMID:16199547|PMID:23830146|PMID:24292712|PMID:25741868|PMID:28492532
Gene Symbol:TTC7A
Accession:NM_020458
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288953
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288951
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288955
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011532999
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011533000
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011533001
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004524
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004526
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004525
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_024453013
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445148
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445146
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445149
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445147
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445150
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445145
Location:INTRON

Gene Symbol:TTC7A
Accession:XR_007078570
Location:INTRON;NON-CODING

.
PMID:16199547   PMID:23830146   PMID:24292712   PMID:25741868   PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001215172 CLINVAR
  RCV002272412 CLINVAR
dbSNP (RS) rs568082272 CLINVAR
MedGen C0220744 CLINVAR
  C5680044 CLINVAR
NCBI Gene TTC7A CLINVAR
OMIM 243150 CLINVAR
  609332 CLINVAR
SNOMED CT 95472001 CLINVAR
1 to 9 of 9 rows