rs111975159 Rat Genome Database

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Variant: rs111975159 -  Homo sapiens

RGD ID: 11626511
RS ID: rs111975159
ClinVar ID: CV345926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 6,069,598
GRCh38 20 6,088,951
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.39594A>G
NC_000020.11:g.6088951T>C
NC_000020.10:g.6069598T>C
NM_017671.5:c.1264+14A>G
More... 		12/04/2020 intron variant benign|likely benign infancy Bullous acrokeratotic poikiloderma of kindler and weary; Congenital bullous poikiloderma; Hereditary acrokeratotic poikiloderma of Weary; Kindler's syndrome; none provided; 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_047440260
Location:INTRON

Gene Symbol:FERMT1
Accession:NM_017671
Location:INTRON

Gene Symbol:FERMT1
Accession:XM_024451935
Location:INTRON

Gene Symbol:FERMT1
Accession:XM_047440259
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000264683 CLINVAR
  RCV001512449 CLINVAR
dbSNP (RS) rs111975159 CLINVAR
MedGen C0406557 CLINVAR
  C3661900 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 173650 CLINVAR
  607900 CLINVAR
SNOMED CT 238836000 CLINVAR