RGD:401864971 Rat Genome Database

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Variant: RGD:401864971 -  Homo sapiens

RGD ID: 401864971
ClinVar ID: CV2768621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBIP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 99,020,130
GRCh38 12 98,626,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_201613.4:c.180-12012A>G
NM_201612.4:c.297+7944A>G
NM_153687.4:c.712A>G
NC_000012.12:g.98626352T>C
More... 		06/21/2023 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:IKBIP
Accession:NM_153687
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWADPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK
LETNEFQQLQSKISLISEKLESTESILQEATSSMSLMTQFEQEVSNLQDIMHDIQNNEEVLTQRMQSLNEKFQNITDFWK
RSLEEMNINTDIFKSEAKHIHSQVTVQINSAEQEIKLLTERLKDLEDSTLRNIRTVKRQEEEDLLRVEEQLGSDTKAVEK
LEEEQHALFARDEDLTNKLSDYEPKVEECKTHLPTIESAIHSVLRVSQDLIETEKKMEDLTMQMFNMEDDMLKAVSEIME
MQKTLEGIQYDNSILKMQNELDILKEKVHDFIAYSSTGEKGTLKEYNIENKGIGGDF*

Gene Symbol:IKBIP
Accession:NM_201612
Location:INTRON

Gene Symbol:IKBIP
Accession:NM_201613
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004344479 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IKBIP CLINVAR
OMIM 609861 CLINVAR