RGD:13703622 Rat Genome Database

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Variant: RGD:13703622 -  Homo sapiens

RGD ID: 13703622
RS ID: rs1554035757
ClinVar ID: CV537789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF10  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 44,310,557
GRCh38 5 44,310,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.9:g.44310557A>T
NG_011446.1:g.83228T>A
NP_004456.1:p.Met134Lys
NM_004465.1:c.401T>A
More... 		11/01/2016 missense variant likely pathogenic LADD syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGF10
Accession:NM_004465
Location:EXON
Amino Acid Prediction: M to K (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSYNHLQGDVRWR
KLFSFTKYFLKIEKNGKVSGTKKENCPYSILEITSVEIGVVAVKAINSNYYLAKNKKGKLYGSKEFNNDCKLKERIEENG
YNTYASFNWQHNGRQMYVALNGKGAPRRGQKTRRKNTSAHFLPMVVHS*

Gene Symbol:FGF10
Accession:XM_005248264
Location:EXON
Amino Acid Prediction: M to K (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSYNHLQGDVRWR
KLFSFTKYFLKIEKNGKVSGTKKENCPYSILEITSVEIGVVAVKAINSNYYLAKNKKGKLYGSKEFNNDCKLKERIEENG
YNTYASFNWQHNGRQMYVALNGKGAPRRGQKTRRKNTSAHFLPMVVHS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000659645 CLINVAR
dbSNP (RS) rs1554035757 CLINVAR
MedGen C0265269 CLINVAR
NCBI Gene FGF10 CLINVAR
OMIM 149730 CLINVAR
  602115 CLINVAR
SNOMED CT 23817003 CLINVAR