RGD:329847814 Rat Genome Database

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Variant: RGD:329847814 -  Homo sapiens

RGD ID: 329847814
ClinVar ID: CV2524565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,401,725
GRCh38 15 78,109,383
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.78109383C>T
NM_006383.4:c.199-1G>A
NC_000015.9:g.78401725C>T
NG_033006.1:g.27153G>A
More... 		05/10/2023 splice acceptor variant likely pathogenic Deafness, autosomal recessive 48
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CIB2
Accession:XM_047432110
Location:3UTRS;EXON

Gene Symbol:CIB2
Accession:NM_001301224
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNKQTIFTEEQLDNYQDCTFFNKKDILKWGNRGSEGFGHSSRVTQAVHSLAPGPSCLSCTHSDCCVCFLHENPFKERIV
AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEE
ADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI*

Gene Symbol:CIB2
Accession:NM_006383
Location:INTRON

Gene Symbol:CIB2
Accession:NM_001271889
Location:INTRON

Gene Symbol:CIB2
Accession:NM_001271888
Location:INTRON

Gene Symbol:CIB2
Accession:XM_005254126
Location:INTRON

Gene Symbol:CIB2
Accession:XM_011521161
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003227457 CLINVAR
MedGen C1836199 CLINVAR
NCBI Gene CIB2 CLINVAR
  SH2D7 CLINVAR
OMIM 605564 CLINVAR
  609439 CLINVAR