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Results for "KIF7"

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
KIF7     Li2017:15030chr15:
90171847-90171847
GAexonicUnknownnonsynonymous SNVNM_198525c.C3835Tp.R1279C20.82.521E-5Li2017 T
KIF7     Hu2022:33chr15:
90172650-90172653
TTCTTexonicUnknownnonframeshift deletionNM_198525c.3470_3472delp.1157_1158del--Hu2022 T
KIF7     SP0120470chr15:
90176141-90176141
CGexonicDe novononsynonymous SNVNM_198525c.G2805Cp.E935D11.83-Fu2022 E
Zhou2022 GE
KIF7     iHART2671chr15:
90176938-90176949
GCTCATTTCTGCGexonicMaternalframeshift deletionNM_198525c.2560_2570delp.A854fs-6.253E-5Ruzzo2019 G
KIF7     5-5131-003chr15:
90199351-90199351
AGupstreamDe novo--Trost2022 G
KIF7     AU1933302chr15:
90176938-90176949
GCTCATTTCTGCGexonicMaternalframeshift deletionNM_198525c.2560_2570delp.A854fs-6.253E-5Cirnigliaro2023 G
KIF7     iHART2670chr15:
90176938-90176949
GCTCATTTCTGCGexonicMaternalframeshift deletionNM_198525c.2560_2570delp.A854fs-6.253E-5Ruzzo2019 G
KIF7     SP0087684chr15:
90193186-90193186
GAintronicDe novo--Fu2022 E
Trost2022 G
KIF7     AU1933301chr15:
90176938-90176949
GCTCATTTCTGCGexonicMaternalframeshift deletionNM_198525c.2560_2570delp.A854fs-6.253E-5Cirnigliaro2023 G
KIF7     7-0224-003chr15:
90177153-90177153
CAintronicDe novo--Trost2022 G
KIF7     AU1725302chr15:
90176938-90176949
GCTCATTTCTGCGexonicPaternalframeshift deletionNM_198525c.2560_2570delp.A854fs-6.253E-5Cirnigliaro2023 G
KIF7     REACH000655chr15:
90178286-90178286
CGintronicDe novo--Trost2022 G
KIF7     Li2017:16111chr15:
90176958-90176958
GAexonicUnknownnonsynonymous SNVNM_198525c.C2551Tp.R851C32.01.0E-4Li2017 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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