MNS > GYP*203.01 or GYP*SAT
Allele Information
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Phenotypes
M
N
S
s
U
He
Mia
Mc
Vw
Mur
Mg
Vr
Me
Mta
Sta
Ria
Cla
Nya
Hut
Hil
Mv
Far
sD
Mit
Dantu
Hop
Nob
Ena
ENKT
`N'
Or
DANE
TSEN
MINY
MUT
SAT
ERIK
Osa
ENEP
ENEH
HAG
ENAV
MARS
ENDA
ENEV
MNTD
SARA
KIPP
JENU
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.59C>T | p.Ser20Leu | Exon 2 | chr4:145,041,720 | chr4:144,120,567 |
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c.71G>A | Exon 2 | chr4:145,041,708 | chr4:144,120,555 |
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c.72T>G | Exon 2 | chr4:145,041,707 | chr4:144,120,554 |
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Sequence
None
Publication
None