rs6053893 Rat Genome Database

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Variant: rs6053893 -  Homo sapiens

RGD ID: 11631094
RS ID: rs6053893
ClinVar ID: CV345922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 6,064,817
GRCh38 20 6,084,170
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.44375G>A
NC_000020.11:g.6084170C>T
NC_000020.10:g.6064817C>T
NM_017671.5:c.1594-6G>A
More... 		01/20/2024 intron variant likely benign|uncertain significance infancy Bullous acrokeratotic poikiloderma of kindler and weary; Congenital bullous poikiloderma; FERMT1-related condition; 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_047440259
Location:INTRON

Gene Symbol:FERMT1
Accession:NM_017671
Location:INTRON

Gene Symbol:FERMT1
Accession:XM_047440260
Location:INTRON

Gene Symbol:FERMT1
Accession:XM_024451935
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000368430 CLINVAR
  RCV000960313 CLINVAR
  RCV003957747 CLINVAR
dbSNP (RS) rs6053893 CLINVAR
MedGen C0406557 CLINVAR
  C3661900 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 173650 CLINVAR
  607900 CLINVAR
SNOMED CT 238836000 CLINVAR