or
or
Exact

Results for "RGMA"

Variant Events: 63

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
RGMA     1-0715-003chr15:
94124716-94124716
TCintergenicDe novo--Yuen2017 G
RGMA     SP0249763chr15:
93595770-93595770
TGintronicDe novo--Trost2022 G
RGMA     1-0337-003chr15:
93614977-93614977
GAintronicDe novo--Trost2022 G
RGMA     SP0088794chr15:
93595770-93595770
TGintronicDe novo--Trost2022 G
RGMA     AU2495301chr15:
93777963-93777963
CTintergenicDe novo--Yuen2017 G
RGMA     SP0117913chr15:
93595770-93595770
TGintronicDe novo--Trost2022 G
RGMA     1-0263-003chr15:
94088953-94088953
CTintergenicDe novo--Yuen2016 G
RGMA     AU3636302chr15:
94016891-94016891
TGintergenicDe novo--Yuen2017 G
RGMA     AU3900302chr15:
93785343-93785349
AGAGGAGAGAGintergenicDe novo--Yuen2017 G
RGMA     AU3716302chr15:
94043280-94043280
CGintergenicDe novo--Yuen2017 G
RGMA     AU3721302chr15:
94190113-94190113
CTintergenicDe novo--Yuen2017 G
RGMA     12175.p1chr15:
93936932-93936932
CTintergenicDe novo--Turner2016 G
RGMA     AU006Achr15:
93588220-93588220
CGUTR3De novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
RGMA     2-0242-003chr15:
93835763-93835763
AGintergenicDe novo--Yuen2017 G
RGMA     SSC02779chr15:
93588403-93588403
GAexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.C1130T
c.C1202T
c.C1130T
c.C1130T
c.C1130T
c.C1178T
p.A377V
p.A401V
p.A377V
p.A377V
p.A377V
p.A393V
19.03-Fu2022 E
Lim2017 E
Trost2022 G
RGMA     1-0473-003chr15:
93923453-93923456
AAACAintergenicDe novo--Yuen2017 G
RGMA     1-0197-003chr15:
94283548-94283548
AAAACintergenicDe novo--Yuen2017 G
RGMA     2-1138-003chr15:
94236156-94236156
CTintergenicDe novo--Yuen2017 G
RGMA     2-1619-004chr15:
93835770-93835770
TCintergenicDe novo--Yuen2017 G
RGMA     AU3052302chr15:
94067493-94067493
GTintergenicDe novo--Yuen2017 G
RGMA     1-0191-003chr15:
93925241-93925241
GTintergenicDe novo--Yuen2017 G
RGMA     AU046706chr15:
94177705-94177705
CTintergenicDe novo--Yuen2017 G
RGMA     7-0249-004chr15:
94272101-94272101
GAintergenicDe novo--Yuen2017 G
RGMA     SP0095440chr15:
93588536-93588536
GAexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.C997T
c.C1069T
c.C997T
c.C997T
c.C997T
c.C1045T
p.P333S
p.P357S
p.P333S
p.P333S
p.P333S
p.P349S
3.371-Fu2022 E
Trost2022 G
Zhou2022 GE
RGMA     AU4056301chr15:
93872728-93872728
TCintergenicDe novo--Yuen2017 G
RGMA     5-0003-004chr15:
93835729-93835729
TAintergenicDe novo--Yuen2017 G
RGMA     SP0106423chr15:
93617153-93617153
GAUTR5De novo--Fu2022 E
Trost2022 G
RGMA     AU3506302chr15:
93935585-93935585
GAintergenicDe novo--Yuen2017 G
RGMA     AU065807chr15:
94358995-94358995
GCintergenicDe novo--Yuen2017 G
RGMA     1-0435-003chr15:
93943800-93943800
GAintergenicDe novo--Yuen2017 G
RGMA     AU4054302chr15:
93893412-93893412
ACintergenicDe novo--Yuen2017 G
RGMA     2-1510-003chr15:
94144298-94144298
CTintergenicDe novo--Yuen2017 G
RGMA     AU2437302chr15:
93612229-93612229
TCintronicDe novo--Trost2022 G
Yuen2017 G
RGMA     2-1327-004chr15:
93680531-93680531
CGintergenicDe novo--Yuen2017 G
RGMA     3-0482-000chr15:
93610440-93610440
GCintronicDe novo--Trost2022 G
Yuen2017 G
RGMA     2-1327-004chr15:
93680637-93680637
CTintergenicDe novo--Yuen2017 G
RGMA     1-0339-003chr15:
94111798-94111798
TGintergenicDe novo--Yuen2017 G
RGMA     2-0303-004chr15:
94303608-94303608
AGintergenicDe novo--Yuen2017 G
RGMA     6251chr15:
93588446-93588446
CTexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.G1087A
c.G1159A
c.G1087A
c.G1087A
c.G1087A
c.G1135A
p.V363I
p.V387I
p.V363I
p.V363I
p.V363I
p.V379I
24.9-Fu2022 E
RGMA     1-0745-003chr15:
93609321-93609321
GAintronicDe novo--Trost2022 G
Yuen2017 G
RGMA     ASC_R928chr15:
93588750-93588750
GAexonicDe novosynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.C783T
c.C855T
c.C783T
c.C783T
c.C783T
c.C831T
p.I261I
p.I285I
p.I261I
p.I261I
p.I261I
p.I277I
-2.0E-4Fu2022 E
RGMA     AU3761302chr15:
94328497-94328497
CTintergenicDe novo--Yuen2017 G
RGMA     2-1089-003chr15:
94116234-94116234
TAintergenicDe novo--Yuen2017 G
RGMA     EGAN00001101421chr15:
94304150-94304150
CGintergenicDe novo--Satterstrom2020 E
Trost2022 G
RGMA     1-0372-003chr15:
93732232-93732232
GTintergenicDe novo--Yuen2017 G
RGMA     1-0494-003Achr15:
93727311-93727311
TCintergenicDe novo--Yuen2017 G
RGMA     2-1505-004chr15:
93835763-93835763
AGintergenicDe novo--Yuen2017 G
RGMA     AU3760302chr15:
93616956-93616956
TTCexonicMaternalframeshift insertionNM_001166283c.29dupGp.G10fs--Cirnigliaro2023 G
RGMA     AU3760301chr15:
93616956-93616956
TTCexonicMaternalframeshift insertionNM_001166283c.29dupGp.G10fs--Cirnigliaro2023 G
RGMA     11627.p1chr15:
93588403-93588403
GAexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.C1130T
c.C1202T
c.C1130T
c.C1130T
c.C1130T
c.C1178T
p.A377V
p.A401V
p.A377V
p.A377V
p.A377V
p.A393V
19.03-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
RGMA     13333.p1chr15:
93588446-93588446
CTexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.G1087A
c.G1159A
c.G1087A
c.G1087A
c.G1087A
c.G1135A
p.V363I
p.V387I
p.V363I
p.V363I
p.V363I
p.V379I
24.9-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
RGMA     AU1860302chr15:
93660804-93660804
AGintergenicDe novo--Yuen2017 G
RGMA     iHART3160chr15:
93616956-93616956
TTCexonicMaternalframeshift insertionNM_001166283c.29dupGp.G10fs--Ruzzo2019 G
RGMA     iHART3163chr15:
93616956-93616956
TTCexonicMaternalframeshift insertionNM_001166283c.29dupGp.G10fs--Ruzzo2019 G
RGMA     AU2137304chr15:
93939772-93939772
AGintergenicDe novo--Yuen2017 G
RGMA     14460.p1chr15:
94053899-94053899
GGTintergenicDe novo--Werling2018 G
RGMA     2-1428-003chr15:
94363006-94363006
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
RGMA     AU3861303chr15:
94146612-94146612
AGintergenicDe novo--Yuen2017 G
RGMA     SP0036128chr15:
93595770-93595770
TGintronicDe novo--Trost2022 G
RGMA     SP0081363chr15:
93595770-93595770
TGintronicDe novo--Trost2022 G
RGMA     1-0494-003chr15:
93727311-93727311
TCintergenicDe novo--Yuen2017 G
RGMA     SP0043742chr15:
93588207-93588207
CGUTR3De novo--Trost2022 G
RGMA     SP0154627chr15:
93595249-93595249
CTexonicDe novononsynonymous SNVNM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211
c.G571A
c.G643A
c.G571A
c.G571A
c.G571A
c.G619A
p.G191S
p.G215S
p.G191S
p.G191S
p.G191S
p.G207S
33.09.895E-5Trost2022 G
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