RGD:405808376 Rat Genome Database

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Variant: RGD:405808376 -  Homo sapiens

RGD ID: 405808376
ClinVar ID: CV3353124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZBTB8A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 33,059,218
GRCh38 1 32,593,617
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001040441.3:c.686G>A
NM_001291496.2:c.686G>A
NC_000001.11:g.32593617G>A
NC_000001.10:g.33059218G>A
More... 		11/06/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:ZBTB8A
Accession:NM_001040441
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVIL
DFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSS
SPRSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKQEVRTSDSSSHV
SQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFS
RLDHLSSHFRTIHQACKLICRKCKRHVTDLTGQVVQEGTRRYRLCNECLAEFGIDSLPIDLEAEQHLMSPSDGDKDSRWH
LSEDENRSYVEIVEDGSADLVIQQVDDSEEEEEKEIKPNIR*

Gene Symbol:ZBTB8A
Accession:NM_001291496
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVIL
DFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSS
SPRSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKQEVRTSDSSSHV
SQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFS
RLDHLSSHFRTMEIRIPDGT*

Gene Symbol:ZBTB8A
Accession:NR_111980
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004481150 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZBTB8A CLINVAR
OMIM 618742 CLINVAR