RGD:8556615 Rat Genome Database

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Variant: RGD:8556615 -  Homo sapiens

RGD ID: 8556615
RS ID: rs121434337
ClinVar ID: CV17098
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  RDH12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 68,193,713
GRCh38 14 67,726,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008321.1:g.30111C>T
NC_000014.9:g.67726996C>T
NC_000014.8:g.68193713C>T
NP_689656.2:p.Thr155Ile
More... 		07/24/2023 missense|missense variant pathogenic Cone-rod degeneration; Cone/cone-rod dystrophy; Congenital retinal blindness; Leber's amaurosis; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RDH12
Accession:NM_152443
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAA
SEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLIYLLLE
RLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE*

Gene Symbol:RDH12
Accession:XM_047430965
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAA
SEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLIYLLLE
RLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE*

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16269441   PMID:25741868   PMID:28157192   PMID:28492532   PMID:30134391   PMID:36909829  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002140 CLINVAR
  RCV001091055 CLINVAR
  RCV001826405 CLINVAR
  RCV002287317 CLINVAR
  RCV003324481 CLINVAR
dbSNP (RS) rs121434337 CLINVAR
MedGen C0339527 CLINVAR
  C2675186 CLINVAR
  C3661900 CLINVAR
  C4085590 CLINVAR
  C4551714 CLINVAR
NCBI Gene GPHN CLINVAR
  RDH12 CLINVAR
OMIM 120970 CLINVAR
  204000 CLINVAR
  603930 CLINVAR
  608830 CLINVAR
  612712 CLINVAR
OMIM Allele 608830.0014 CLINVAR
SNOMED CT 193413001 CLINVAR