or
or
Exact

Results for "ANKRD35"

Variant Events: 16

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
ANKRD35     08C76578chr1:
145562818-145562818		GAexonicDe novononsynonymous SNVNM_001280799
NM_144698		c.G2236A
c.G2506A		p.E746K
p.E836K		15.74-Satterstrom2020 E
Zhou2022 GE
ANKRD35     74-0075chr1:
145551831-145551831		GAintronicInherited--Michaelson2012 G
ANKRD35     474-04-100574chr1:
145555746-145555746		GCexonicDe novononsynonymous SNVNM_144698c.G94Cp.D32H19.541.669E-5Satterstrom2020 E
Zhou2022 GE
ANKRD35     08C76578chr1:
145562820-145562820		GAexonicDe novosynonymous SNVNM_001280799
NM_144698		c.G2238A
c.G2508A		p.E746E
p.E836E		--Trost2022 G
ANKRD35     iHART2361chr1:
145557047-145557047		GAsplicingPaternalsplicing20.73.295E-5Ruzzo2019 G
ANKRD35     iHART1066chr1:
145555823-145555823		GAsplicingPaternalsplicing20.42.0E-4Ruzzo2019 G
ANKRD35     SSC02330chr1:
145561197-145561197		GAexonicDe novosynonymous SNVNM_001280799
NM_144698		c.G615A
c.G885A		p.S205S
p.S295S		-4.249E-5Lim2017 E
ANKRD35     mAGRE1066chr1:
145555823-145555823		GAsplicingPaternalsplicing20.42.0E-4Cirnigliaro2023 G
ANKRD35     mAGRE4142chr1:
145561836-145561836		TTGexonicPaternalframeshift insertionNM_001280799
NM_144698		c.1255dupG
c.1525dupG		p.A418fs
p.A508fs		-2.0E-4Cirnigliaro2023 G
ANKRD35     mAGRE2111chr1:
145561218-145561218		TGexonicPaternalstopgainNM_001280799
NM_144698		c.T636G
c.T906G		p.Y212X
p.Y302X		15.312.0E-4Cirnigliaro2023 G
ANKRD35     mAGRE1844chr1:
145561218-145561218		TGexonicMaternalstopgainNM_001280799
NM_144698		c.T636G
c.T906G		p.Y212X
p.Y302X		15.312.0E-4Cirnigliaro2023 G
ANKRD35     mAGRE2361chr1:
145557047-145557047		GAsplicingPaternalsplicing20.73.295E-5Cirnigliaro2023 G
ANKRD35     AU2764301chr1:
145562818-145562818		GAexonicnonsynonymous SNVNM_001280799
NM_144698		c.G2236A
c.G2506A		p.E746K
p.E836K		15.74-Zhou2022 GE
ANKRD35     SP0072330chr1:
145561577-145561580		CAGACexonicnonframeshift deletionNM_001280799
NM_144698		c.996_998del
c.1266_1268del		p.332_333del
p.422_423del		-1.0E-4Zhou2022 GE
ANKRD35     AU056604chr1:
145563284-145563284		GAintronicDe novo--Yuen2017 G
ANKRD35     11676.p1 Complex Event; expand row to view variants  De novosynonymous SNVNM_001280799
NM_144698
NM_001280799
NM_144698		c.G615A
c.G885A
c.G615T
c.G885T		p.S205S
p.S295S
p.S205S
p.S295S		-4.249E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE
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

VariCarta Copyright © 2016-2023 Contact Us