rs199887605 Rat Genome Database

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Variant: rs199887605 -  Homo sapiens

RGD ID: 9851426
RS ID: rs199887605
ClinVar ID: CV181630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 241,661,233
GRCh38 1 241,497,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012338.1:g.26822C>T
NC_000001.11:g.241497933G>A
NC_000001.10:g.241661233G>A
p.H476H
More... 		12/04/2020 synonymous variant likely benign AllHighlyPenetrant; Cancer predisposition; Cutaneous leiomyomata with uterine leiomyomata; Familial leiomyomatosis; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Leiomyoma, hereditary multiple, of skin; Leiomyoma, multiple cutaneous; Multiple cutaneous and uterine leiomyomata; MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA; Multiple cutaneous and uterine leiomyomatosis; Multiple cutaneous leiomyomas; Neoplastic Syndromes, Hereditary; none provided; Reed syndrome; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FH
Accession:NM_000143
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 476
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGELKVPNDKYYGAQTVRSTMNFK
IGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNR
AIEMLGGELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAV
PLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDA
LVELSGAMNTTACSLMKIANDIRFLGSGPRSGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSN
GHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGS
TLKETAIELGYLTAEQFDEWVKPKDMLGPK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000163868 CLINVAR
  RCV000250389 CLINVAR
  RCV001721056 CLINVAR
  RCV003316010 CLINVAR
dbSNP (RS) rs199887605 CLINVAR
MedGen C0027672 CLINVAR
  C1708350 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FH CLINVAR
OMIM 136850 CLINVAR
  150800 CLINVAR
  605839 CLINVAR
SNOMED CT 699346009 CLINVAR