Full data view for gene GABRA2

Information The variants shown are described using the NM_000807.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-10-504A>C r.(=) p.(=) Unknown - VUS g.46391237T>G - GABRA2(NM_001377148.1):c.-11+8A>C - GABRA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10-125G>T r.(=) p.(=) Unknown - likely benign g.46390858C>A - GABRA2(NM_001377151.1):c.-14G>T - GABRA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77T>C r.(?) p.(Val26Ala) Unknown - VUS g.46388201A>G - GABRA2(NM_001114175.3):c.77T>C (p.V26A) - GABRA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256-8dup r.(=) p.(=) Unknown - likely benign g.46314746dup - GABRA2(NM_000807.4):c.256-8dup - GABRA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690T>C r.(?) p.(=) Unknown - likely benign g.46307598A>G - GABRA2(NM_001114175.3):c.690T>C (p.I230=) - GABRA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695C>G r.(?) p.(Ser232Cys) Unknown - VUS g.46307593G>C - GABRA2(NM_001114175.3):c.695C>G (p.S232C) - GABRA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.862A>G r.(?) p.(Thr288Ala) Unknown ACMG VUS (!) g.46264140T>C - - - GABRA2_000005 ACMG: PM1, PM2_SUP, PP2, PP3; threonine at position 288 is located in the "transmembrane" domain of the GABRA2 protein and is highly conserved across many species. So far, only missense variants in highly conserved amino acids of this transmembrane domain have been detected in affected patients. The neighbouring amino acid exchanges p.Thr292Ile, p.Thr292Lys and p.Leu291Val have been described as pathogenic. No missense variants in this region of the protein (between amino acid positions 278 and 317) are described in the gnomAD population database - - - Germline ? - - - - DNA SEQ-NG-I - - EIEE78 159194 - - M ? Turkey - - - - - 1 Andreas Laner
-?/. - c.1178C>T r.(?) p.(Thr393Met) Unknown - likely benign g.46252503G>A - GABRA2(NM_001114175.2):c.1178C>T (p.T393M) - GABRA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1219G>A r.(?) p.(Ala407Thr) Unknown - VUS g.46252462C>T - GABRA2(NM_001114175.2):c.1219G>A (p.A407T) - GABRA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220C>A r.(?) p.(Ala407Glu) Unknown - VUS g.46252461G>T - GABRA2(NM_001114175.2):c.1220C>A (p.A407E) - GABRA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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