Genomic variant #0000039517

Individual ID 00016632
Chromosome 14
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.65560390T>C
Reference -
DB-ID MAX_000010 See all 3 reported entries
dbSNP ID rs115053488
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00052
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAX NM_001271068.1 -?/-? - c.144+36A>G r.(=) p.(=)
MAX NM_001271069.1 -?/-? - c.144+36A>G r.(=) p.(=)
MAX NM_002382.4 -?/-? - c.171+36A>G r.(=) p.(=)
MAX NM_145112.2 -?/-? - c.144+36A>G r.(=) p.(=)
MAX NM_145113.2 -?/-? - c.171+36A>G r.(=) p.(=)
MAX NM_145114.2 -?/-? - c.171+36A>G r.(=) p.(=)
MAX NM_197957.3 -?/-? - c.171+36A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006968 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou