RGD:12896138 Rat Genome Database

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Variant: RGD:12896138 -  Homo sapiens

RGD ID: 12896138
RS ID: rs11885389
ClinVar ID: CV389513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC7A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 47,251,510
GRCh38 2 47,024,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.47024371G>C
NC_000002.11:g.47251510G>C
NM_020458.2:c.1641+12G>C
LRG_1323t1:c.1641+12G>C
More... 		12/08/2020 intron variant benign AllHighlyPenetrant; Familial intestinal polyatresia syndrome; Multiple intestinal atresia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TTC7A
Accession:XM_017004525
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445147
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011532999
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004524
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004526
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288951
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011533001
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445150
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445146
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445149
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011533000
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445148
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_024453013
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445145
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_020458
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288953
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288955
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454931 CLINVAR
  RCV001518357 CLINVAR
  RCV001613293 CLINVAR
dbSNP (RS) rs11885389 CLINVAR
MedGen C0220744 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TTC7A CLINVAR
OMIM 243150 CLINVAR
  609332 CLINVAR
SNOMED CT 95472001 CLINVAR