RGD:14393434 Rat Genome Database

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Variant: RGD:14393434 -  Homo sapiens

RGD ID: 14393434
RS ID: rs1564911425
ClinVar ID: CV609052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INS  INS-IGF2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,181,125
GRCh38 11 2,159,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001172026.1:p.Thr97Ser
NP_001172027.1:p.Thr97Ser
NP_001278826.1:p.Thr97Ser
NM_000207.3:c.290C>G
More... 		09/07/2017 intron variant likely pathogenic|uncertain risk allele
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:INS
Accession:NM_000207
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001185097
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001291897
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001185098
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS-IGF2
Accession:NM_001042376
Location:INTRON

Gene Symbol:INS-IGF2
Accession:NR_003512
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11921414   PMID:17855560   PMID:18162506   PMID:18171712   PMID:18192540   PMID:20226046   PMID:25542748   PMID:25741868   PMID:26101329  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000754809 CLINVAR
  RCV002464307 CLINVAR
dbSNP (RS) rs1564911425 CLINVAR
MedGen C3150617 CLINVAR
  C3278636 CLINVAR
NCBI Gene INS CLINVAR
  INS-IGF2 CLINVAR
OMIM 176730 CLINVAR
  613370 CLINVAR