RGD:8600234 Rat Genome Database

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Variant: RGD:8600234 -  Homo sapiens

RGD ID: 8600234
RS ID: rs121913073
ClinVar ID: CV31573
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F13A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 6,224,943
GRCh38 6 6,224,710
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_008107.1:g.100982G>T
NC_000006.12:g.6224710C>A
NC_000006.11:g.6224943C>A
NP_000120.2:p.Val317Phe
More... 		03/05/2012 missense|missense variant pathogenic all ages|variable <1 / 1 000 000 Factor XIII subunit A deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F13A1
Accession:NM_000129
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRG
QSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRM
YVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWFFAG
VFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTP
QENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITF
YTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGT
QVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
ELDVQIQRRPSM*
Variant Samples
Additional References at PubMed
PMID:11167856  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017999 CLINVAR
dbSNP (RS) rs121913073 CLINVAR
MedGen C2750514 CLINVAR
NCBI Gene F13A1 CLINVAR
OMIM 134570 CLINVAR
  613225 CLINVAR
OMIM Allele 134570.0012 CLINVAR