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Results for "DIS3L"

Variant Events: 29

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
DIS3L     SP0103630chr15:
66585980-66585980		GAexonicDe novononsynonymous SNVNM_001143688c.G46Ap.G16S23.4-Fu2022 E
Trost2022 G
Zhou2022 GE
DIS3L     1-0563-004chr15:
66601296-66601296		AGintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L     Marques2022:64chr15:
66607419-66607419		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G860A
c.G611A		p.R287H
p.R204H		36.0-Marques2022 ET
DIS3L     2-1774-003chr15:
66606158-66606158		GAintronicDe novo--Trost2022 G
DIS3L     5-0101-003chr15:
66626093-66626093		TAUTR3De novo--Trost2022 G
DIS3L     MSSNG00255-005chr15:
66597719-66597719		CTintronicDe novo--Trost2022 G
DIS3L     iHART2429chr15:
66607470-66607470		GAexonicPaternalstopgainNM_001143688
NM_133375		c.G911A
c.G662A		p.W304X
p.W221X		23.48.238E-6Ruzzo2019 G
DIS3L     Marques2022:70chr15:
66615886-66615886		AGexonicnonsynonymous SNVNM_001143688
NM_133375		c.A1630G
c.A1381G		p.S544G
p.S461G		17.61-Marques2022 ET
DIS3L     Marques2022:69chr15:
66615859-66615859		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C1603T
c.C1354T		p.R535C
p.R452C		18.59.06E-5Marques2022 ET
DIS3L     iHART3055chr15:
66618172-66618172		TAexonicPaternalstopgainNM_001143688
NM_133375		c.T1671A
c.T1422A		p.Y557X
p.Y474X		35.07.597E-5Ruzzo2019 G
DIS3L     Marques2022:72chr15:
66618395-66618395		CGexonicnonsynonymous SNVNM_001143688
NM_133375		c.C1894G
c.C1645G		p.L632V
p.L549V		15.39-Marques2022 ET
DIS3L     iHART2430chr15:
66607470-66607470		GAexonicPaternalstopgainNM_001143688
NM_133375		c.G911A
c.G662A		p.W304X
p.W221X		23.48.238E-6Ruzzo2019 G
DIS3L     Marques2022:71chr15:
66618278-66618278		GCexonicnonsynonymous SNVNM_001143688
NM_133375		c.G1777C
c.G1528C		p.A593P
p.A510P		28.8-Marques2022 ET
DIS3L     Marques2022:66chr15:
66612931-66612931		TGexonicnonsynonymous SNVNM_001143688
NM_133375		c.T1187G
c.T938G		p.I396S
p.I313S		27.3-Marques2022 ET
DIS3L     Marques2022:65chr15:
66612927-66612927		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C1183T
c.C934T		p.R395C
p.R312C		26.11.0E-4Marques2022 ET
DIS3L     Marques2022:68chr15:
66615092-66615092		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G1394A
c.G1145A		p.R465H
p.R382H		19.062.471E-5Marques2022 ET
DIS3L     Marques2022:67chr15:
66612933-66612933		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G1189A
c.G940A		p.D397N
p.D314N		35.0-Marques2022 ET
DIS3L     iHART3052chr15:
66618172-66618172		TAexonicPaternalstopgainNM_001143688
NM_133375		c.T1671A
c.T1422A		p.Y557X
p.Y474X		35.07.597E-5Ruzzo2019 G
DIS3L     Marques2022:74chr15:
66621325-66621325		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C2219T
c.C1970T		p.A740V
p.A657V		31.08.263E-6Marques2022 ET
DIS3L     iHART3056chr15:
66618172-66618172		TAexonicPaternalstopgainNM_001143688
NM_133375		c.T1671A
c.T1422A		p.Y557X
p.Y474X		35.07.597E-5Ruzzo2019 G
DIS3L     Marques2022:73chr15:
66621325-66621325		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C2219T
c.C1970T		p.A740V
p.A657V		31.08.263E-6Marques2022 ET
DIS3L     Marques2022:76chr15:
66621382-66621382		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G2276A
c.G2027A		p.R759H
p.R676H		26.60.0061Marques2022 ET
DIS3L     Marques2022:75chr15:
66621382-66621382		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G2276A
c.G2027A		p.R759H
p.R676H		26.60.0061Marques2022 ET
DIS3L     AU3052303chr15:
66618172-66618172		TAexonicPaternalstopgainNM_001143688
NM_133375		c.T1671A
c.T1422A		p.Y557X
p.Y474X		35.07.597E-5Cirnigliaro2023 G
DIS3L     TRE_1015chr15:
66587467-66587467		ATexonicDe novononsynonymous SNVNM_001143688
NM_133375		c.A281T
c.A32T		p.Q94L
p.Q11L		5.499-Fu2022 E
DIS3L     AU3052302chr15:
66618172-66618172		TAexonicPaternalstopgainNM_001143688
NM_133375		c.T1671A
c.T1422A		p.Y557X
p.Y474X		35.07.597E-5Cirnigliaro2023 G
DIS3L     AU3052301chr15:
66618172-66618172		TAexonicPaternalstopgainNM_001143688
NM_133375		c.T1671A
c.T1422A		p.Y557X
p.Y474X		35.07.597E-5Cirnigliaro2023 G
DIS3L     mAGRE2430chr15:
66607470-66607470		GAexonicPaternalstopgainNM_001143688
NM_133375		c.G911A
c.G662A		p.W304X
p.W221X		23.48.238E-6Cirnigliaro2023 G
DIS3L     mAGRE2429chr15:
66607470-66607470		GAexonicPaternalstopgainNM_001143688
NM_133375		c.G911A
c.G662A		p.W304X
p.W221X		23.48.238E-6Cirnigliaro2023 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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