RGD:11649037 Rat Genome Database

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Variant: RGD:11649037 -  Homo sapiens

RGD ID: 11649037
RS ID: rs886060655
ClinVar ID: CV304057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 44,388,641
GRCh38 5 44,388,539
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
NM_004465.1:c.144G>A
NG_011446.1:g.5144G>A
NC_000005.10:g.44388539C>T
NC_000005.9:g.44388641C>T
More... 		06/14/2016 synonymous variant uncertain significance antenatal <1 / 1 000 000 Aplasia of lacrimal and salivary glands; Salivary glands, absence of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGF10
Accession:NM_004465
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSYNHLQGDVRWR
KLFSFTKYFLKIEKNGKVSGTKKENCPYSILEITSVEIGVVAVKAINSNYYLAMNKKGKLYGSKEFNNDCKLKERIEENG
YNTYASFNWQHNGRQMYVALNGKGAPRRGQKTRRKNTSAHFLPMVVHS*

Gene Symbol:FGF10
Accession:XM_005248264
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSYNHLQGDVRWR
KLFSFTKYFLKIEKNGKVSGTKKENCPYSILEITSVEIGVVAVKAINSNYYLAMNKKGKLYGSKEFNNDCKLKERIEENG
YNTYASFNWQHNGRQMYVALNGKGAPRRGQKTRRKNTSAHFLPMVVHS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000377629 CLINVAR
dbSNP (RS) rs886060655 CLINVAR
MedGen C0158667 CLINVAR
NCBI Gene FGF10 CLINVAR
OMIM 180920 CLINVAR
  602115 CLINVAR
SNOMED CT 22589009 CLINVAR