RGD:11616176 Rat Genome Database

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Variant: RGD:11616176 -  Homo sapiens

RGD ID: 11616176
RS ID: rs2295433
ClinVar ID: CV336223
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 6,104,068
GRCh38 20 6,123,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_016213.1:g.5124G>A
NC_000020.11:g.6123421C>T
NC_000020.10:g.6104068C>T
NM_017671.4:c.-666G>A
 01/13/2018 5 prime utr variant benign infancy Bullous acrokeratotic poikiloderma of kindler and weary; Congenital bullous poikiloderma; Hereditary acrokeratotic poikiloderma of Weary; Kindler's syndrome; Poikiloderma of Kindler; Poikiloderma, congenital, with bullae, weary type; Poikiloderma, hereditary acrokeratotic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292507 CLINVAR
dbSNP (RS) rs2295433 CLINVAR
MedGen C0406557 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 173650 CLINVAR
  607900 CLINVAR
SNOMED CT 238836000 CLINVAR