RGD:15201944 Rat Genome Database

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Variant: RGD:15201944 -  Homo sapiens

RGD ID: 15201944
RS ID: rs367595962
ClinVar ID: CV730143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC7A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,277,193
GRCh38 2 47,050,054
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288953.2:c.1915+8C>T
NM_020458.4:c.2017+8C>T
NM_001288951.2:c.2089+8C>T
NM_001288955.2:c.955+8C>T
More... 		10/24/2018 intron variant likely benign Familial intestinal polyatresia syndrome; Multiple intestinal atresia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TTC7A
Accession:XM_011532999
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004526
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_024453013
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445148
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_020458
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445147
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288951
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445149
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288955
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011533001
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004524
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445150
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445146
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_047445145
Location:INTRON

Gene Symbol:TTC7A
Accession:NM_001288953
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_011533000
Location:INTRON

Gene Symbol:TTC7A
Accession:XM_017004525
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000891339 CLINVAR
dbSNP (RS) rs367595962 CLINVAR
MedGen C0220744 CLINVAR
NCBI Gene TTC7A CLINVAR
OMIM 243150 CLINVAR
  609332 CLINVAR
SNOMED CT 95472001 CLINVAR