Variant #0000675174 (NC_000009.11:g.130265080C>A, LRSAM1(NM_138361.5):c.2074C>A)

Individual ID 00307132
Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.130265080C>A
DNA change (hg38) g.127502801C>A
Published as -
ISCN -
DB-ID LRSAM1_000055
Variant remarks submission for publication Reilich et al, 2020 (submitted); amino acid change from histidine to asparagine, therefore RING domain 675-710 altered at aa 692
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRSAM1 NM_138361.5 +?/. - c.2074C>A r.(?) p.(His692Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308274 DNA SEQ-NG-I - - LRSAM1 1 Andreas Laner