RGD:155643629 Rat Genome Database

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Variant: RGD:155643629 -  Homo sapiens

RGD ID: 155643629
ClinVar ID: CV1707978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  LOC130057683  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,423,511
GRCh38 15 78,131,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271889.2:c.47A>G
NC_000015.10:g.78131169T>C
NC_000015.9:g.78423511T>C
NM_001271888.2:c.-48A>G
More... 		08/04/2022 5 prime utr variant uncertain significance Deafness, autosomal recessive 48
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:NM_001271888
Location:5UTRS;EXON

Gene Symbol:CIB2
Accession:NM_006383
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNCQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_001271889
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNCQENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLE
LTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_005254126
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNCQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSE
DGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDG
DGKLGFADFEDMIAKAPDFLRCCHYRGRAWAGQSRAGRDVGAEAPITRYL*

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNCQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLQENPFKERIV
AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:XM_047432110
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNCQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRMGKPRLRGIWSLLQ
GHTGCPQSGSGALLLILHPQ*

Gene Symbol:CIB2
Accession:NR_125435
Location:EXON;NON-CODING

Gene Symbol:CIB2
Accession:XM_011521161
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002289439 CLINVAR
MedGen C1836199 CLINVAR
NCBI Gene CIB2 CLINVAR
  LOC130057683 CLINVAR
OMIM 605564 CLINVAR
  609439 CLINVAR