RGD:8644842 Rat Genome Database

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Variant: RGD:8644842 -  Homo sapiens

RGD ID: 8644842
RS ID: rs367543094
ClinVar ID: CV104249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DISC1  TSNAX-DISC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 232,144,551
GRCh38 1 232,008,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.232008805G>A
NC_000001.10:g.232144551G>A
NP_061132.2:p.Gly688Glu
NR_028393.1:n.2729G>A
More... 		07/21/2021 3 prime utr variant|missense|missense variant|non-coding transcript variant uncertain significance|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:DISC1
Accession:NM_001164547
Location:3UTRS;EXON

Gene Symbol:DISC1
Accession:NM_001164537
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 720
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKVETGFHYVGQAGLELLTSSNPPASASQS
AGITAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSL
HVSITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLA
SAGQIPFHAEPPETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLT
EEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLE
KVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQK
EESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAG
VHEAQA*

Gene Symbol:DISC1
Accession:NM_018662
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 688
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI
TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG
SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLEKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAI
HSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA*

Gene Symbol:DISC1
Accession:NM_001012957
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 688
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI
TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG
SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLEKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETL
QAMILQLQPAKEAGEREAAASCMTAGVHEAQA*

Gene Symbol:DISC1
Accession:NM_001164540
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 566
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQHLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFW
TAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSC
KCPLLEKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHC
AGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAA
SCMTAGVHEAQA*

Gene Symbol:DISC1
Accession:NM_001164538
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 688
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI
TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG
SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLEKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEVCPFHMASRGDPYSKGCFGTMLQMGTINIGK
ASH*

Gene Symbol:DISC1
Accession:NM_001164541
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 668
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI
TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG
SVKEDYNRLRREVEHQETAYAASVHCLRKCGKLTWKLVDCLSRAYSSRKPGEACL*

Gene Symbol:TSNAX-DISC1
Accession:NR_028393
Location:EXON;NON-CODING

Gene Symbol:DISC1
Accession:NM_001164542
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164546
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001012959
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164539
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164544
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164545
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164548
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164556
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164549
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164551
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164555
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164552
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164550
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164553
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001012958
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164554
Location:INTRON

Gene Symbol:TSNAX-DISC1
Accession:NR_028394
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028395
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028397
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028396
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028398
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028400
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028399
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000084647 CLINVAR
  RCV004019583 CLINVAR
dbSNP (RS) rs367543094 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DISC1 CLINVAR
  TSNAX-DISC1 CLINVAR
OMIM 605210 CLINVAR