RGD:8602173 Rat Genome Database

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Variant: RGD:8602173 -  Homo sapiens

RGD ID: 8602173
RS ID: rs387906840
ClinVar ID: CV39224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBA1A  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 49,580,607
GRCh38 12 49,186,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008966.1:g.7255A>C
NC_000012.12:g.49186824T>G
NC_000012.11:g.49580607T>G
NP_006000.2:p.Ile5Leu
More... 		07/01/2018 5 prime utr variant|missense|missense variant pathogenic|likely pathogenic <1 / 1 000 000 Lissencephaly 3; Tubulinopathies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUBA1A
Accession:NM_001270400
Location:5UTRS;EXON

Gene Symbol:TUBA1A
Accession:NM_006009
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRECLSIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRT
GTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLDRIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVD
YGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYR
GDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYA
KRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGVDSVEGEGEEEGEEY*

Gene Symbol:TUBA1A
Accession:NM_001270399
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRECLSIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRT
GTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLDRIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVD
YGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYR
GDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYA
KRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGVDSVEGEGEEEGEEY*
Variant Samples
Additional References at PubMed
PMID:21403111   PMID:25741868   PMID:30744660  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023197 CLINVAR
  RCV000767414 CLINVAR
dbSNP (RS) rs387906840 CLINVAR
MedGen C4305153 CLINVAR
  CN850169 CLINVAR
NCBI Gene TUBA1A CLINVAR
OMIM 602529 CLINVAR
  611603 CLINVAR
OMIM Allele 602529.0009 CLINVAR