RGD:11631600 Rat Genome Database

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Variant: RGD:11631600 -  Homo sapiens

RGD ID: 11631600
RS ID: rs557517529
ClinVar ID: CV350311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 6,056,521
GRCh38 20 6,075,874
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.52671C>T
NC_000020.11:g.6075874G>A
NC_000020.10:g.6056521G>A
NM_017671.5:c.*1299C>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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 Transcripts
Gene Symbol:FERMT1
Accession:XM_047440259
Location:3UTRS;EXON

Gene Symbol:FERMT1
Accession:NM_017671
Location:3UTRS;EXON

Gene Symbol:FERMT1
Accession:XM_024451935
Location:3UTRS;EXON

Gene Symbol:FERMT1
Accession:XM_047440260
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000381725 CLINVAR
dbSNP (RS) rs557517529 CLINVAR
MedGen C0406557 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 173650 CLINVAR
  607900 CLINVAR
SNOMED CT 238836000 CLINVAR