RGD:8643639 Rat Genome Database

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Variant: RGD:8643639 -  Homo sapiens

RGD ID: 8643639
RS ID: rs587777101
ClinVar ID: CV102960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDIN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 36,950,041
GRCh38 15 36,657,840
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000015.10:g.36657840A>G
NC_000015.9:g.36950041A>G
NM_001130010.1:c.281A>G
NG_034055.1:g.83238A>G
More...
07/11/2019 5 prime utr variant|missense variant pathogenic|likely pathogenic neonatal/infancy <1 / 1 000 000 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDA, TYPE Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDIN1
Accession:NM_032499
Location:5UTRS;EXON

Gene Symbol:CDIN1
Accession:NM_001290232
Location:5UTRS;EXON

Gene Symbol:CDIN1
Accession:NM_001321757
Location:5UTRS;EXON

Gene Symbol:CDIN1
Accession:NM_001321756
Location:5UTRS;EXON

Gene Symbol:CDIN1
Accession:XM_047433174
Location:5UTRS;EXON

Gene Symbol:CDIN1
Accession:NM_001130010
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
GPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001290233
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRD
GISQCSSGWCGTPGLSDSSASATQSAGITGARKHFLPGIFMKCVCK*

Gene Symbol:CDIN1
Accession:NM_001321761
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVVMLCPLAVEGHIIHWIESKASFGDECSHHAYLHDQFW
SYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001321759
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
GPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:NM_001321760
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVDLGQA*

Gene Symbol:CDIN1
Accession:NM_001321758
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPRYLNGVVKNGAAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPS
KSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDF
ILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLC
HSIA*

Gene Symbol:CDIN1
Accession:XM_017022676
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPHEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHH
AYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_017022677
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPHEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHH
AYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA*

Gene Symbol:CDIN1
Accession:XM_047433171
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKQP
TYTFPTTAYTHQGKNVRNQPPQLSKV*

Gene Symbol:CDIN1
Accession:XM_047433172
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHL
YSPRKKCEKPATSTFQSVTPGHSY*

Gene Symbol:CDIN1
Accession:XM_047433173
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHL
YSPRKKCEKPATSTFQSVTPGHSY*

Gene Symbol:CDIN1
Accession:XM_047433175
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNG
AAPVLLDLANEVDCAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQPCPPTPFPPQLILTKEKM
*

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

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

Gene Symbol:CDIN1
Accession:XM_047433176
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16643456   PMID:23716552   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083302 CLINVAR
dbSNP (RS) rs587777101 CLINVAR
MedGen C3810185 CLINVAR
NCBI Gene C15orf41 CLINVAR
OMIM 615626 CLINVAR
  615631 CLINVAR
OMIM Allele 615626.0002 CLINVAR