RGD:11588160 Rat Genome Database

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Variant: RGD:11588160 -  Homo sapiens

RGD ID: 11588160
RS ID: rs750971578
ClinVar ID: CV303784
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F13A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 6,145,984
GRCh38 6 6,145,751
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
LRG_549t1:c.2067C>T
LRG_549:g.179941C>T
NG_008107.1:g.179941C>T
NC_000006.12:g.6145751G>A
More... 		01/13/2018 synonymous variant uncertain significance all ages <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: T to T (synonymous)
Amino Acid Position: 689
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRG
QSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRM
YVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAG
VFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTP
QENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITF
YTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGT
QVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
ELDVQIQRRPSM*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300905 CLINVAR
dbSNP (RS) rs750971578 CLINVAR
MedGen C2750514 CLINVAR
NCBI Gene F13A1 CLINVAR
OMIM 134570 CLINVAR
  613225 CLINVAR