RGD:11666098 Rat Genome Database

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Variant: RGD:11666098 -  Homo sapiens

RGD ID: 11666098
RS ID: rs111763965
ClinVar ID: CV353705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF10  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 44,305,092
GRCh38 5 44,304,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011446.1:g.88693A>T
NC_000005.10:g.44304990T>A
NC_000005.9:g.44305092T>A
 06/12/2021 500b downstream variant benign|likely benign antenatal <1 / 1 000 000 Aplasia of lacrimal and salivary glands; LADD syndrome; none provided; Salivary glands, absence of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGF10
Accession:XM_005248264
Location:3UTRS;EXON

Gene Symbol:FGF10
Accession:NM_004465
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000315768 CLINVAR
  RCV000361118 CLINVAR
  RCV001692088 CLINVAR
dbSNP (RS) rs111763965 CLINVAR
MedGen C0158667 CLINVAR
  C0265269 CLINVAR
  C3661900 CLINVAR
NCBI Gene FGF10 CLINVAR
OMIM 149730 CLINVAR
  180920 CLINVAR
  602115 CLINVAR
SNOMED CT 22589009 CLINVAR
  23817003 CLINVAR