RGD:13787282 Rat Genome Database

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Variant: RGD:13787282 -  Homo sapiens

RGD ID: 13787282
RS ID: rs1555190633
ClinVar ID: CV545520
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SLC37A4  
Reference Nucleotide: -
Variant Nucleotide: AAAAGCCTGTGAGCTCCG
Position
Assembly Chr Position
GRCh37 11 118,896,411
GRCh38 11 119,025,701
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164280.2:c.985+265_985+266insCGGAGCTCACAGGCTTTT
NM_001467.6:c.985+265_985+266insCGGAGCTCACAGGCTTTT
NG_013331.1:g.10204_10205insGGAGCTCACAGGCTTTTC
NC_000011.9:g.118896412_118896413insAAAAGCCTGTGAGCTCCG
More... 		12/29/2016 inframe_insertion|intron variant likely benign Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164278
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 348

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQGCCFLDSGSSPSRGAHRLYTA*ALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRL
SGWAALQHHCQALQLEHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000664752 CLINVAR
dbSNP (RS) rs1555190633 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR