LOVD - Variant listings for MLYCD

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Patient data (#0000528)
Patient ID WILAD
Disease Developmental Delay, Short stature, Acidosis,
Reference/Submitter [6145813], :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 Yes
Related Phenotype -
Unrelated  Phenotype -
Submitter Patrick Wrightman

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 01
Legacy DNA ID c.8G>A
DNA change c.8G>A
RNA change -
Protein change -
RNA information RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Missense
Protein information A.A. Substitution
DB-ID MLYCD_00003
Location Exon
Base number 8
5' Sequence Context CAGCTGC
Original Sequence G
Variant Sequence A
3' Sequence Context GGCCGAC
Type Transition
Domain MTS
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 01 c.8G>A c.8G>A - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Missense A.A. Substitution MLYCD_00003 Exon 8 CAGCTGC G A GGCCGAC Transition MTS Direct Sequencing - -