rs778201596 Rat Genome Database

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Variant: rs778201596 -  Homo sapiens

RGD ID: 151825407
RS ID: rs778201596
ClinVar ID: CV1393724
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRELD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 9,985,766
GRCh38 3 9,944,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031717.4:c.1229C>T
NM_001374317.1:c.1241C>T
NM_001374318.1:c.1241C>T
NM_001374319.1:c.965-283C>T
More... 		03/24/2023 intron variant uncertain significance Atrioventricular septal defect 2; CRELD1-related condition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRELD1
Accession:XM_047448897
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:CRELD1
Accession:NM_001410713
Location:3UTRS;EXON

Gene Symbol:CRELD1
Accession:NM_001374317
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPDAVLGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQV
AKLGSQSRQSDRGMRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:XM_047448898
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQVAKLG
SQSRQSDRGMRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:XM_011534108
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPDAVLGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQV
AKLGSQSRQSDRGMRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001374318
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPDAVLGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQV
AKLGSQSRQSDRGMRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001031717
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENL
SKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQ
CENTEGGYRCICAEGYKQMEGICVKEQIPGAFPILTDLTPETTRRWKLGSHPHSTYVKMKMQRDEATFPGLYGKQVAKLG
SQSRQSDRGMRLIHSQQASSQR*

Gene Symbol:CRELD1
Accession:NM_001374320
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374316
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_015513
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001077415
Location:INTRON

Gene Symbol:CRELD1
Accession:XM_047448900
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374319
Location:INTRON

Gene Symbol:CRELD1
Accession:NR_164477
Location:INTRON;NON-CODING

Gene Symbol:CRELD1
Accession:NR_164475
Location:INTRON;NON-CODING

Gene Symbol:CRELD1
Accession:NR_164476
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002030294 CLINVAR
  RCV003408048 CLINVAR
dbSNP (RS) rs778201596 CLINVAR
MedGen C1853508 CLINVAR
NCBI Gene CRELD1 CLINVAR
OMIM 606217 CLINVAR
  607170 CLINVAR