RGD:150332202 Rat Genome Database

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Variant: RGD:150332202 -  Homo sapiens

RGD ID: 150332202
RS ID: rs2121246284
ClinVar ID: CV1163742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBA1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 49,580,106
GRCh38 12 49,186,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006000.2:p.Arg121Gln
NC_000012.12:g.49186323C>T
NC_000012.11:g.49580106C>T
NM_001270400.2:c.257G>A
More... 		06/19/2023 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Isolated Lissencephaly Sequence; Lissencephaly 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUBA1A
Accession:NM_006009
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRT
GTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLDQIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVD
YGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYR
GDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYA
KRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGVDSVEGEGEEEGEEY*

Gene Symbol:TUBA1A
Accession:NM_001270399
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRT
GTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLDQIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVD
YGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYR
GDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYA
KRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGVDSVEGEGEEEGEEY*

Gene Symbol:TUBA1A
Accession:NM_001270400
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLITGKEDAANNYARGHYTIGKEII
DLVLDQIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVDYGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTL
EHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPV
ISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGI
NYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEV
GVDSVEGEGEEEGEEY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001528134 CLINVAR
  RCV001873728 CLINVAR
  RCV002290716 CLINVAR
dbSNP (RS) rs2121246284 CLINVAR
MedGen C3661900 CLINVAR
  C4305153 CLINVAR
  C4749301 CLINVAR
NCBI Gene TUBA1A CLINVAR
OMIM 602529 CLINVAR
  607432 CLINVAR
  611603 CLINVAR