View unique variants - LOVD - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the GLRA1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.

15 entries
entries per page

Exon

DNA change

do not use

RNA change

Protein change

Protein_reported

DB-ID

ex1-6del
(Reported 4 times)

ex1-6del

GRLA1_00013

1-196C>T
(Reported 25 times)

1-196C>T

GRLA1_00002

56+43G>A

GRLA1_00004

117G>C

413G>C

Ser39Ser

Ser11Ser

GRLA1_00001

299G>A

595G>A

Arg100His

Arg72His

GRLA1_00003

767A>G
(Reported 3 times)

1063A>G

Tyr256Cys

Tyr228Cys

GRLA1_00005

777C>G

C1073G

Ser259Arg

Ser231Arg

GRLA1_00006

832C>A

C1128A

Pro278Thr

Pro250Thr

GRLA1_00007

884G>A

1180G>A

Ser295Asn

Ser267Asn

GRLA1_00008

892T>A

T1188A

Ser298Thr

Ser270Thr

GRLA1_00009

896G>A
(Reported 4 times)

1192G>A

Arg299Gln

Arg271Gln

GRLA1_00010

910A>C

1206A>C

Lys304Gln

Lys276Gln

GRLA1_00015

910A>G

1206A>G

Lys304Glu

Lys276Glu

GRLA1_00011

917C>A

1213C>A

Ser306Tyr

Ser278Tyr

GRLA1_00012

1041G>A

1337G>A

Arg347Arg

Arg319Arg

GRLA1_00014

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Legend: [ GLRA1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. do not use: DNA_reported RNA change: RNA change Protein change: Protein Protein_reported: Protein_reported GLRA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

LOVD - Leiden Open Variation Database

GLycine Receptor, Alpha 1 (GLRA1)