Variant #0000078828 (NC_000018.9:g.48573454A>G, SMAD4(NM_005359.5):c.38A>G)

Individual ID 00049994
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48573454A>G
DNA change (hg38) g.51047084A>G
Published as -
ISCN -
DB-ID SMAD4_000004 See all 2 reported entries
Variant remarks rare variant found in a patient with pulmonary arterial hypertension; ACMG PM2, PP3
Reference PubMed: Nasim 2011, ExPASy_066870, Journal: Nasim 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner SIB - Livia Famiglietti
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/? 1 c.38A>G r.(?) p.(Asn13Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049914 DNA SEQ - - SMAD4 1 Global Variome, with Curator vacancy