RGD:8559424 Rat Genome Database

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Variant: RGD:8559424 -  Homo sapiens

RGD ID: 8559424
RS ID: rs121918542
ClinVar ID: CV21624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIGYF2  KCNJ13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 233,633,500
GRCh38 2 232,768,790
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_002242.4:c.484C>T
NG_016742.1:g.12776C>T
NC_000002.12:g.232768790G>A
NC_000002.11:g.233633500G>A
More... 		01/30/2021 intron|intron variant|missense|missense variant pathogenic|likely pathogenic <1 / 1 000 000 none provided; Snowflake degeneration in hereditary vitreoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ13
Accession:NM_001172417
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:NM_002242
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:NM_001172416
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWCFCGE
DCQAKKSSFFNSLY*

Gene Symbol:KCNJ13
Accession:XM_047444253
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:GIGYF2
Accession:NM_015575
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103147
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103148
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103146
Location:INTRON

Gene Symbol:GIGYF2
Accession:NR_103493
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103494
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103492
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103495
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:18179896   PMID:23255580   PMID:23977131   PMID:25741868   PMID:28492532   PMID:33546218  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006963 CLINVAR
  RCV001389454 CLINVAR
dbSNP (RS) rs121918542 CLINVAR
MedGen C1860405 CLINVAR
  C3661900 CLINVAR
NCBI Gene GIGYF2 CLINVAR
  KCNJ13 CLINVAR
OMIM 193230 CLINVAR
  603208 CLINVAR
  612003 CLINVAR
OMIM Allele 603208.0001 CLINVAR