RGD:155968128 Rat Genome Database

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Variant: RGD:155968128 -  Homo sapiens

RGD ID: 155968128
ClinVar ID: CV2261959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBIP  LOC127824815  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 99,038,359
GRCh38 12 98,644,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_201614.1:c.-80G>T
NM_153687.4:c.121G>T
NM_201612.4:c.121G>T
NG_126331.1:g.548C>A
More... 		12/21/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:IKBIP
Accession:NM_201612
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWSDPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK
LETNEFQQLQSKISLISEKWQKSEAIMEQLKSFQIIAHLKRLQEEINEVKTWSNRITEKQDILNNSLTTLSQDITKVDQS
TTSMAKDVGLKITSVKTDIRRISGLVTDVISLTDSVQELENKIEKVEKNTVKNIGDLLSSSIDRTATLRKTASENSQRIN
SVKKTLTELKSDFDKHTDRFLSLEGDRAKVLKTVTFANDLKPKVYNLKKDFSRLEPLVNDLTLRIGRLVTDLLQREKEIA
FLSEKISNLTIVQAEIKDIKDEIAHISDMN*

Gene Symbol:IKBIP
Accession:NM_153687
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWSDPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK
LETNEFQQLQSKISLISEKLESTESILQEATSSMSLMTQFEQEVSNLQDIMHDIQNNEEVLTQRMQSLNEKFQNITDFWK
RSLEEMNINTDIFKSEAKHIHSQVTVQINSAEQEIKLLTERLKDLEDSTLRNIRTVKRQEEEDLLRVEEQLGSDTKAIEK
LEEEQHALFARDEDLTNKLSDYEPKVEECKTHLPTIESAIHSVLRVSQDLIETEKKMEDLTMQMFNMEDDMLKAVSEIME
MQKTLEGIQYDNSILKMQNELDILKEKVHDFIAYSSTGEKGTLKEYNIENKGIGGDF*

Gene Symbol:IKBIP
Accession:NM_201613
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWSDPRTCLSLLSLGTCLGLACGRNLKLSWNN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004126454 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IKBIP CLINVAR
OMIM 609861 CLINVAR