RGD:8556603 Rat Genome Database

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Variant: RGD:8556603 -  Homo sapiens

RGD ID: 8556603
RS ID: rs28940313
ClinVar ID: CV17085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  LOC127827812  RDH12  ZFYVE26  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 68,195,926
GRCh38 14 67,729,209
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.32324A>G
NC_000014.9:g.67729209A>G
NC_000014.8:g.68195926A>G
NP_689656.2:p.Tyr226Cys
More... 		11/18/2019 missense|missense variant pathogenic|likely pathogenic 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:ZFYVE26
Accession:XM_047431173
Location:3UTRS;EXON

Gene Symbol:RDH12
Accession:XM_047430965
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAA
SEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLE
RLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTCAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE*

Gene Symbol:RDH12
Accession:NM_152443
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAA
SEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLE
RLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTCAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE*

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_047431175
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_047431174
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:ZFYVE26
Accession:NM_015346
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_011536609
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15258582   PMID:15322982   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002127 CLINVAR
  RCV001073384 CLINVAR
  RCV001092306 CLINVAR
dbSNP (RS) rs28940313 CLINVAR
MedGen C0854723 CLINVAR
  C2675186 CLINVAR
  C3661900 CLINVAR
NCBI Gene GPHN CLINVAR
  RDH12 CLINVAR
  ZFYVE26 CLINVAR
OMIM 603930 CLINVAR
  608830 CLINVAR
  612012 CLINVAR
  612712 CLINVAR
OMIM Allele 608830.0001 CLINVAR
SNOMED CT 314407005 CLINVAR