RGD:152047623 Rat Genome Database

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Variant: RGD:152047623 -  Homo sapiens

RGD ID: 152047623
RS ID: rs750327944
ClinVar ID: CV1569483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  LOC105370538  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 67,626,222
GRCh38 14 67,159,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008875.1:g.657098G>T
NC_000014.9:g.67159505G>T
NC_000014.8:g.67626222G>T
NM_001024218.2:c.1811+17G>T
More... 		04/18/2021 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_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:LOC105370538
Accession:XR_007064215
Location:INTRON;NON-CODING

Gene Symbol:LOC105370538
Accession:XR_001750990
Location:INTRON;NON-CODING

Gene Symbol:LOC105370538
Accession:XR_007064216
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002126832 CLINVAR
dbSNP (RS) rs750327944 CLINVAR
MedGen C1854990 CLINVAR
NCBI Gene GPHN CLINVAR
OMIM 603930 CLINVAR
  615501 CLINVAR