LOVD - Variant listings for MLYCD

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Patient data (#0000540)
Patient ID SLAJA
Disease Developmental Delay, Seizures, Hypoglycemia
Reference/Submitter [10417274], :Edinburgh
Template DNA
Technique Direct Sequencing
Remarks DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line
# Reported 1
Population -
Gender Male
Sequence Inheritance -
Phenotype Inheritance -
Second PCR Yes
CIS No
Conserved residue n/a
Related Phenotype -
Unrelated  Phenotype -
Submitter Patrick Wrightman

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 04
Legacy DNA ID IVS4-14A>G
DNA change IVS4-14A>G
RNA change r.?
Protein change -
RNA information RNA Frame Change: Frameshift ;RNA Splice Change: Cryptic Site Activation;RNA Transcription Change: T2; RNA Sequence Change: Insertion
Protein information Premature Termination
DB-ID MLYCD_00014
Location Intron
Base number 14
5' Sequence Context -
Original Sequence A
Variant Sequence G
3' Sequence Context -
Type Transition
Domain n/a
Detection Method Direct Sequencing
RE Site -
Frequency -

1 entry in MLYCD

Path. Allele
Exon Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Location Descending
Ascending
Base number Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
Detection Method Descending
Ascending
RE Site Descending
Ascending
Frequency Descending
Ascending
?/? Unknown 04 IVS4-14A>G IVS4-14A>G r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Cryptic Site Activation;RNA Transcription Change: T2; RNA Sequence Change: Insertion Premature Termination MLYCD_00014 Intron 14 - A G - Transition n/a Direct Sequencing - -