RGD:243065093 Rat Genome Database

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Variant: RGD:243065093 -  Homo sapiens

RGD ID: 243065093
ClinVar ID: CV2409589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDIN1  CSNK1A1P1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 37,100,620
GRCh38 15 36,808,419
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321760.2:c.*79C>A
NM_001321757.2:c.443C>A
NM_001290232.2:c.518C>A
NM_001321756.2:c.518C>A
More... 		09/26/2023 3 prime utr variant uncertain significance ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDA, TYPE Ib; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDIN1
Accession:NM_001321760
Location:3UTRS;EXON

Gene Symbol:CDIN1
Accession:NM_032499
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNL
SFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCN
RERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001321757
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPV
AVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001321759
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
GPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001130010
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
GPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_047433174
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNL
SFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCN
RERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001321756
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNL
SFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCN
RERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_017022676
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDYAPSLMARLILERFLQEHEETPHEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHH
AYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_047433176
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPV
AVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001290232
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNL
SFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCN
RERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001321758
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPRYLNGVVKNGAAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPS
KSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDF
ILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLC
HSIA*

Gene Symbol:CDIN1
Accession:NM_001321761
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVVMLCPLAVEGHIIHWIESKASFGDECSHHAYLHDQFW
SYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_017022677
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDYAPSLMARLILERFLQEHEETPHEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHH
AYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPKNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_047433172
Location:INTRON

Gene Symbol:CDIN1
Accession:NM_001290233
Location:INTRON

Gene Symbol:CDIN1
Accession:XM_047433173
Location:INTRON

Gene Symbol:CDIN1
Accession:XM_047433171
Location:INTRON

Gene Symbol:CDIN1
Accession:XM_047433175
Location:INTRON

Gene Symbol:CDIN1
Accession:XR_007064492
Location:INTRON;NON-CODING

Gene Symbol:CDIN1
Accession:XR_007064491
Location:INTRON;NON-CODING

Gene Symbol:CSNK1A1P1
Accession:NR_027320
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003143861 CLINVAR
  RCV003328496 CLINVAR
MedGen C3661900 CLINVAR
  C3810185 CLINVAR
NCBI Gene CDIN1 CLINVAR
OMIM 615626 CLINVAR
  615631 CLINVAR