Variant #0000513757 (NC_000002.11:g.191064716G>T, MSTN(NM_005259.2):c.-137394C>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.191064716G>T
DNA change (hg38) g.190199990G>T
Published as C2orf88(NM_001042519.1):c.130G>T (p.(Val44Phe))
ISCN -
DB-ID C2orf88_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSTN NM_005259.2 -?/. - c.-137394C>A r.(?) p.(=)
HIBCH NM_014362.3 -?/. - c.*5127C>A r.(=) p.(=)
C2orf88 NM_032321.2 -?/. - c.130G>T r.(?) p.(Val44Phe)