RGD:15141516 Rat Genome Database

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Variant: RGD:15141516 -  Homo sapiens

RGD ID: 15141516
RS ID: rs561701030
ClinVar ID: CV712638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,897,650
GRCh38 11 119,026,940
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164278.2:c.781G>A
NG_013331.1:g.8966G>A
NC_000011.10:g.119026940C>T
NC_000011.9:g.118897650C>T
More... 		02/01/2022 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance Glycogen storage disease type 1B; GSD Ib; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164280
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 261

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*LGPVLPYPGERTVSPYR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001467
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 261

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*LGPVLPYPGERTVSPYR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 188

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGP
ILATILAQSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWL
PCGVWSKDLLY*LGPVLPYPGERTVSPYR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDS
VHVPLPGNSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQL
EHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 261

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*LGPVLPYPGERTVSPYR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQGCCFLDSGSSPSRGAHRLYRA*ALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRL
SGWAALQHHCQALQLEHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 261

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*LGPVLPYPGERTVSPYR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000966318 CLINVAR
  RCV001084431 CLINVAR
  RCV003972853 CLINVAR
dbSNP (RS) rs561701030 CLINVAR
MedGen C0268146 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR