RGD:401760583 Rat Genome Database

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Variant: RGD:401760583 -  Homo sapiens

RGD ID: 401760583
ClinVar ID: CV2695093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBIP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 99,019,718
GRCh38 12 98,625,940
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153687.4:c.1124G>A
NM_201613.4:c.180-11600G>A
NM_201612.4:c.297+8356G>A
NC_000012.12:g.98625940C>T
More... 		03/24/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:IKBIP
Accession:NM_153687
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWADPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK
LETNEFQQLQSKISLISEKLESTESILQEATSSMSLMTQFEQEVSNLQDIMHDIQNNEEVLTQRMQSLNEKFQNITDFWK
RSLEEMNINTDIFKSEAKHIHSQVTVQINSAEQEIKLLTERLKDLEDSTLRNIRTVKRQEEEDLLRVEEQLGSDTKAIEK
LEEEQHALFARDEDLTNKLSDYEPKVEECKTHLPTIESAIHSVLRVSQDLIETEKKMEDLTMQMFNMEDDMLKAVSEIME
MQKTLEGIQYDNSILKMQNELDILKEKVHDFIAYSSTGEKGTLKEYNIENKGIGDDF*

Gene Symbol:IKBIP
Accession:NM_201613
Location:INTRON

Gene Symbol:IKBIP
Accession:NM_201612
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004303251 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IKBIP CLINVAR
OMIM 609861 CLINVAR