RGD:127317731 Rat Genome Database

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Variant: RGD:127317731 -  Homo sapiens

RGD ID: 127317731
RS ID: rs768831916
ClinVar ID: CV1123838
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 66,975,319
GRCh38 14 66,508,601
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001024218.2:c.64+10G>A
NM_001377514.1:c.64+10G>A
NM_001377515.1:c.64+10G>A
NM_001377516.1:c.64+10G>A
More... 		03/06/2020 intron variant likely benign Molybdenum cofactor deficiency C; Molybdenum cofactor deficiency, complementation group C
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001465976 CLINVAR
dbSNP (RS) rs768831916 CLINVAR
MedGen C1854990 CLINVAR
NCBI Gene GPHN CLINVAR
OMIM 603930 CLINVAR
  615501 CLINVAR