RGD:14729305 Rat Genome Database

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Variant: RGD:14729305 -  Homo sapiens

RGD ID: 14729305
RS ID: rs1447842650
ClinVar ID: CV635118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F13A1  LOC124901253  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 6,318,810
GRCh38 6 6,318,577
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000129.4:c.88G>A
NM_000129.3:c.88G>A
NC_000006.12:g.6318577C>T
LRG_549t1:c.88G>A
More... 		10/17/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:F13A1
Accession:NM_000129
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSETSRTAFGGRRAVPPNNSNAAEDDLPTMELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRG
QSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRM
YVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAG
VFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTP
QENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITF
YTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGT
QVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
ELDVQIQRRPSM*

Gene Symbol:LOC124901253
Accession:XR_007059428
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000816897 CLINVAR
dbSNP (RS) rs1447842650 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene F13A1 CLINVAR
OMIM 134570 CLINVAR