RGD:151728124 Rat Genome Database

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Variant: RGD:151728124 -  Homo sapiens

RGD ID: 151728124
RS ID: rs372651461
ClinVar ID: CV1335129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F13A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 6,174,865
GRCh38 6 6,174,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_549t1:c.1695G>A
NM_000129.4:c.1695G>A
LRG_549:g.151060G>A
NG_008107.1:g.151060G>A
More... 		02/09/2022 synonymous variant likely benign AllHighlyPenetrant; F13A1-related condition

Variant Details
Variant Transcripts
Gene Symbol:F13A1
Accession:NM_000129
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 565
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRG
QSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRM
YVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAG
VFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTP
QENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITF
YTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGT
QVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
ELDVQIQRRPSM*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001844447 CLINVAR
  RCV003968586 CLINVAR
dbSNP (RS) rs372651461 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene F13A1 CLINVAR
OMIM 134570 CLINVAR