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Results for "SAMD9"

Variant Events: 13

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
SAMD9     A30chr7:
92734165-92734165		CAexonicDe novononsynonymous SNVNM_001193307
NM_017654		c.G1246T
c.G1246T		p.V416L
p.V416L		17.918.363E-6Wu2018 G
SAMD9     Li2017:18388chr7:
92733202-92733202		GTexonicUnknownnonsynonymous SNVNM_001193307
NM_017654		c.C2209A
c.C2209A		p.H737N
p.H737N		18.11-Li2017 T
SAMD9     AU4235302chr7:
92749153-92749153		TCintergenicDe novo--Yuen2017 G
SAMD9     Li2017:19805chr7:
92734723-92734723		GAexonicUnknownnonsynonymous SNVNM_001193307
NM_017654		c.C688T
c.C688T		p.R230C
p.R230C		20.73.295E-5Li2017 T
SAMD9     Mahjani2021:122chr7:
92731069-92731069		GAexonicstopgainNM_001193307
NM_017654		c.C4342T
c.C4342T		p.Q1448X
p.Q1448X		40.0-Mahjani2021 E
SAMD9     mAGRE4847chr7:
92732800-92732800		CAexonicPaternalstopgainNM_001193307
NM_017654		c.G2611T
c.G2611T		p.E871X
p.E871X		36.03.325E-5Cirnigliaro2023 G
SAMD9     Cukier2014:37037chr7:
92734051-92734051		CTexonicUnknownnonsynonymous SNVNM_001193307
NM_017654		c.G1360A
c.G1360A		p.A454T
p.A454T		0.0130.0549Cukier2014 E
SAMD9     mAGRE4023chr7:
92730841-92730841		GAexonicMaternalstopgainNM_001193307
NM_017654		c.C4570T
c.C4570T		p.Q1524X
p.Q1524X		43.08.258E-6Cirnigliaro2023 G
SAMD9     Li2017:27841chr7:
92734951-92734951		GAexonicUnknownstopgainNM_001193307
NM_017654		c.C460T
c.C460T		p.Q154X
p.Q154X		16.018.239E-6Li2017 T
SAMD9     2-0145-004chr7:
92737786-92737786		CTintronicDe novo--Trost2022 G
Yuen2017 G
SAMD9     1-0226-005chr7:
92756617-92756617		TCintergenicDe novo--Yuen2017 G
SAMD9     SP0029102chr7:
92732776-92732776		ACexonicnonsynonymous SNVNM_001193307
NM_017654		c.T2635G
c.T2635G		p.F879V
p.F879V		5.341-Zhou2022 GE
SAMD9     11299.p1chr7:
92734882-92734882		AGexonicsynonymous SNVNM_001193307
NM_017654		c.T529C
c.T529C		p.L177L
p.L177L		-8.237E-6Zhou2022 GE
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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