RGD:155958597 Rat Genome Database

Variant: RGD:155958597 - Homo sapiens

RGD ID:

155958597

ClinVar ID:

CV2395216

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DISC1 TSNAX-DISC1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	231,829,883
GRCh38	1	231,694,137

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001158020.1:p.Arg127Gly NP_001158021.1:p.Arg127Gly NP_001158022.1:p.Arg127Gly NP_001158023.1:p.Arg127Gly More...	01/19/2022	intron variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	DISC1
Accession:	NM_001164537
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKVETGFHYVGQAGLELLTSSNPPASASQS AGITAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSL HVSITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLA SAGQIPFHAEPPETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLT EEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLG KVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQK EESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAG VHEAQA*

Gene Symbol:	DISC1
Accession:	NM_018662
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAI HSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA*

Gene Symbol:	DISC1
Accession:	NM_001012957
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER QMDDLEGAAPPIPPRLHSEDKRKTPLKESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETL QAMILQLQPAKEAGEREAAASCMTAGVHEAQA*

Gene Symbol:	DISC1
Accession:	NM_001164540
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQHLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFW TAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSC KCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHC AGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAA SCMTAGVHEAQA*

Gene Symbol:	DISC1
Accession:	NM_001164538
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEVCPFHMASRGDPYSKGCFGTMLQMGTINIGK ASH*

Gene Symbol:	DISC1
Accession:	NM_001164541
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYAASVHCLGKCGKLTWKLVDCLSRAYSSRKPGEACL*

Gene Symbol:	DISC1
Accession:	NM_001164547
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRRNKCEGKYYEVHGNT*

Gene Symbol:	DISC1
Accession:	NM_001164542
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCR*

Gene Symbol:	DISC1
Accession:	NM_001164546
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRRNKCEGKYYEVHGNT*

Gene Symbol:	DISC1
Accession:	NM_001012959
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYGYKYCDAESWTQRSQQLA*

Gene Symbol:	DISC1
Accession:	NM_001164539
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYDGVSLCRPVWSAVVRSCSLQPLPPEFKQFSCLSLRSSWDYRCPPPCLANFVFLVEMGFYH VDQTGLKLLTSSDPPSSASQSAGITDMSHCAWPLQ*

Gene Symbol:	DISC1
Accession:	NM_001164544
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG SVKEDYNRLRREVEHQETAYGR*

Gene Symbol:	DISC1
Accession:	NM_001164545
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI TTKETISGRLKTSPRRLDH*

Gene Symbol:	DISC1
Accession:	NM_001164548
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRRKPFLDG*

Gene Symbol:	DISC1
Accession:	NM_001164549
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRRYC*

Gene Symbol:	DISC1
Accession:	NM_001164551
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA LSSFLGHLAAQVQAALRRGATQQ*

Gene Symbol:	DISC1
Accession:	NM_001164555
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMELRRYNKD*

Gene Symbol:	DISC1
Accession:	NM_001164552
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKGLLEEVATSHLTLHT*

Gene Symbol:	DISC1
Accession:	NM_001164550
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKGSHWKGYIFIWGEQQLWIRIMKIDNGKW ACHSGTFPSFFPEPAGTNCFGSTMEASTS*

Gene Symbol:	DISC1
Accession:	NM_001164553
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAGTNCFGSTMEASTS*

Gene Symbol:	DISC1
Accession:	NM_001012958
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMELEPIALDPPWKPRHPEPNSY*

Gene Symbol:	DISC1
Accession:	NM_001164554
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTGLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKGEF*

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

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

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

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

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

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

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

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

Gene Symbol:	DISC1
Accession:	NM_001164556
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004236882	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	DISC1	CLINVAR
	TSNAX-DISC1	CLINVAR
OMIM	605210	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:155958597 - Homo sapiens