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Results for "Yin2020"

Variant Events: 18

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
MTHFR     Yin2020:137chr1:
11863038-11863038		GAexonicnonsynonymous SNVNM_005957c.C136Tp.R46W24.12.0E-4Yin2020 T
EHMT1     Yin2020:041chr9:
140657138-140657138		GAexonicnonsynonymous SNVNM_001145527
NM_024757		c.G1513A
c.G1513A		p.G505S
p.G505S		20.74.948E-5Yin2020 T
SLC9A6     Yin2020:104chrX:
135126650-135126650		CGexonicnonsynonymous SNVNM_001042537
NM_006359
NM_001177651		c.C1873G
c.C1777G
c.C1717G		p.L625V
p.L593V
p.L573V		9.889-Yin2020 T
SCN2A     Yin2020:137chr2:
166245865-166245865		AGexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A5549G
c.A5549G
c.A5549G		p.D1850G
p.D1850G
p.D1850G		16.97-Yin2020 T
MFSD8     Yin2020:041chr4:
128864993-128864993		TCexonicnonsynonymous SNVNM_152778c.A353Gp.N118S12.238.243E-6Yin2020 T
GRIN2A     Yin2020:031chr16:
10031919-10031919		CAexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833		c.G904T
c.G904T
c.G904T		p.A302S
p.A302S
p.A302S		18.94-Yin2020 T
GRIN2A     Yin2020:113chr16:
10274241-10274241		GTexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833		c.C28A
c.C28A
c.C28A		p.L10M
p.L10M
p.L10M		17.46-Yin2020 T
PLXNB2     Yin2020:110chr22:
50728272-50728272		GAexonicnonsynonymous SNVNM_012401c.C742Tp.R248C20.84.195E-5Yin2020 T
PLXNB2     Yin2020:086chr22:
50728272-50728272		GAexonicnonsynonymous SNVNM_012401c.C742Tp.R248C20.84.195E-5Yin2020 T
GRIN2A     Yin2020:090chr16:
10274241-10274241		GTexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833		c.C28A
c.C28A
c.C28A		p.L10M
p.L10M
p.L10M		17.46-Yin2020 T
UBE3A     Yin2020:029chr15:
25585300-25585300		GCexonicnonsynonymous SNVNM_130838
NM_130839
NM_000462		c.C2370G
c.C2430G
c.C2439G		p.D790E
p.D810E
p.D813E		26.1-Yin2020 T
CDKL5     Yin2020:139chrX:
18622431-18622431		AGexonicnonsynonymous SNVNM_003159
NM_001037343		c.A1387G
c.A1387G		p.K463E
p.K463E		13.932.288E-5Yin2020 T
EHMT1     Yin2020:104chr9:
140638361-140638361		ATexonicnonsynonymous SNVNM_001145527
NM_024757		c.A989T
c.A989T		p.K330M
p.K330M		20.9-Yin2020 T
SLC9A6     Yin2020:030chrX:
135067832-135067832		CGexonicnonsynonymous SNVNM_001042537
NM_006359
NM_001177651		c.C171G
c.C171G
c.C15G		p.I57M
p.I57M
p.I5M		13.553.431E-5Yin2020 T
SCN1A     Yin2020:121chr2:
166892718-166892718		CGexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G3269C
c.G3185C
c.G3236C
c.G3269C		p.S1090T
p.S1062T
p.S1079T
p.S1090T		14.26-Yin2020 T
SCN1A     Yin2020:037chr2:
166850655-166850655		CAsplicingsplicing27.9-Yin2020 T
MECP2     Yin2020:073chrX:
153296876-153296876		TCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.A439G
c.A403G
c.A124G		p.K147E
p.K135E
p.K42E		16.75-Yin2020 T
PCDH19     Yin2020:051chrX:
99663475-99663475		TCexonicnonsynonymous SNVNM_001105243
NM_001184880
NM_020766		c.A121G
c.A121G
c.A121G		p.N41D
p.N41D
p.N41D		17.85-Yin2020 T
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
Curation notesView
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