or
or
Exact

Results for "ZSCAN32"

Variant Events: 6

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
ZSCAN32     200675308@1082034240chr16:
3447392-3447392
TCexonicDe novononsynonymous SNVNM_001284527c.A166Gp.S56G15.56-Satterstrom2020 E
ZSCAN32     iHART2704chr16:
3433131-3433131
GTexonicMaternalstopgainNM_001284529
NM_001284528
NM_017810
NM_001284527
c.C948A
c.C948A
c.C1179A
c.C1815A
p.Y316X
p.Y316X
p.Y393X
p.Y605X
17.81-Ruzzo2019 G
ZSCAN32     iHART2705chr16:
3433131-3433131
GTexonicMaternalstopgainNM_001284529
NM_001284528
NM_017810
NM_001284527
c.C948A
c.C948A
c.C1179A
c.C1815A
p.Y316X
p.Y316X
p.Y393X
p.Y605X
17.81-Ruzzo2019 G
ZSCAN32     AU4433301chr16:
3437158-3437158
CAintronicDe novo--Yuen2017 G
ZSCAN32     13409.p1chr16:
3434733-3434733
CAexonicMosaic, De novosynonymous SNVNM_001284529
NM_001284528
NM_017810
NM_001284527
c.G93T
c.G93T
c.G324T
c.G960T
p.V31V
p.V31V
p.V108V
p.V320V
--Krumm2015 E
Krupp2017 E
ZSCAN32     SP0021852chr16:
3433002-3433002
GTexonicDe novononsynonymous SNVNM_001284529
NM_001284528
NM_017810
NM_001284527
c.C1077A
c.C1077A
c.C1308A
c.C1944A
p.F359L
p.F359L
p.F436L
p.F648L
0.5888.249E-6Feliciano2019 E
Source Variant Information

, -

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
More