RGD:156221375 Rat Genome Database

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Variant: RGD:156221375 -  Homo sapiens

RGD ID: 156221375
ClinVar ID: CV2343830
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARID3B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 74,865,218
GRCh38 15 74,572,877
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001307939.2:c.568T>C
NM_006465.4:c.568T>C
NC_000015.10:g.74572877T>C
NC_000015.9:g.74865218T>C
More... 		07/13/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ARID3B
Accession:NM_006465
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLQQQQQQQQQQQKQPHLAPLQMDAREKQGQQMREAQFLYAQKLVTQPTLLSATAGRPSGSTPLGPLARVPPTAAVAQ
VFERGNMNSEPEEEDGGLEDEDGDDEVAEVAEKETQAASKYFHVQKVARQDPRVAPMSNLLPAPGLPPHGQQAKEDHTKD
ASKASPSVSTAGQPNWNLDEQLKQNGGLARSDDADGGRGREISRDFAKLYELDGDPERKEFLDDLFVFMQKRGTPINRIP
IMAKQILDLYMLYKLVTEKGGLVEIINKKIWREITKGLNLPTSITSAAFTLRTQYMKYLYAYECEKKALSSPAELQAAID
GNRREGRRPSYSSSLFGYSPAAATAAAAAGAPALLSPPKIRFPILGLGSSSGTNTSSPRISPATTLRKGDGAPVTTVPVP
NRLAVPVTLASQQAGTRTAALEQLRERLESGEPAEKKASRLSEEEQRLVQQAFQRNFFSMARQLPMKIRINGREDRAEAS
AAALNLTTSSIGSINMSVDIDGTTYAGVLFAQKPVVHLITGSAPQSLGSSASSSSSSHCSPSPTSSRGTPSAEPSTSWSL
*

Gene Symbol:ARID3B
Accession:NM_001307939
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPLQQQQQQQQQQQKQPHLAPLQMDAREKQGQQMREAQFLYAQKLVTQPTLLSATAGRPSGSTPLGPLARVPPTAAVAQ
VFERGNMNSEPEEEDGGLEDEDGDDEVAEVAEKETQAASKYFHVQKVARQDPRVAPMSNLLPAPGLPPHGQQAKEDHTKD
ASKASPSVSTAGQPNWNLDEQLKQNGGLARSDDADGGRGREISRDFAKLYELDGDPERKEFLDDLFVFMQKRGTPINRIP
IMAKQILDLYMLYKLVTEKGGLVEIINKKIWREITKGLNLPTSITSAAFTLRTQYMKYLYAYECEKKALSSPAELQAAID
GNRREGRRPSYSSSLFGYSPAAATAAAAAGAPALLSPPKIRFPILGLGSSSGTNTSSPRISPATTLRKGDGAPVTTVPVP
NRLAVPVTLASQQAGTRTAALEQLRERLESGEPAEKKASRLSEEEQRLVQQAFQRNFFSMARQLPMKIRINGRAEDRAEA
SAAALNLTTSSIGSINMSVDIDGTTYAGVLFAQKPVVHLITGSAPQSLGSSASSSSSSHCSPSPTSSRGTPSAEPSTSWS
L*

Gene Symbol:ARID3B
Accession:XR_007064419
Location:EXON;NON-CODING

Gene Symbol:ARID3B
Accession:XR_007064418
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004193416 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARID3B CLINVAR
OMIM 612457 CLINVAR