LOVD - Variant listings for ATM

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Patient data (#0002165)
Disease Ataxia-Telangiectasia (OMIM208900)
Phenotype additional -
Remarks -
Reference Vorechovsky et al. 1996c
Geographic origin -
Ethnic origin -
Gender -
Inher. -
Cons. -
# Reported 1

Variant data
Allele Parent #1
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 15
DNA change c.[2114_2115delAC;2119_2120insAC]
do not use -
RNA change r.(?)
Protein change p.(705[TyrSerSer][PheIlePro])
DB-ID ATM_00126
do not use -
Protein_data -
Frequency -
RE-site -

1 entry in ATM

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
do not use Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
do not use Descending
Ascending
Protein_data Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Parent #1 15 c.[2114_2115delAC;2119_2120insAC] - r.(?) p.(705[TyrSerSer][PheIlePro]) ATM_00126 - - - -

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