Variant "TTN:c.18295C>T(p.Leu4855Phe)"
Search result: 1 record
Variant information
Gene:
Variant:
TTN:c.18295C>T(p.Leu4855Phe)
Genomic location:
chr2:179594832(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001267550.2:c.18295C>T(p.Leu6099Phe) |
protein_coding | NM_001256850.1:c.17344C>T(p.Leu5782Phe) |
protein_coding | NM_133378.4:c.14563C>T(p.Leu4855Phe) |
protein_coding | NM_133437.4:c.13858+7977C>T |
protein_coding | NM_003319.4:c.13282+7977C>T |
show all |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered onset time(1)
Detail: