NM_005566.4(LDHA):c.300G>A (p.Gln100=) AND Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002623280.2
Allele description [Variation Report for NM_005566.4(LDHA):c.300G>A (p.Gln100=)]
NM_005566.4(LDHA):c.300G>A (p.Gln100=)
Condition(s)
-
ABCD2 ATP binding cassette subfamily D member 2 [Homo sapiens]
ABCD2 ATP binding cassette subfamily D member 2 [Homo sapiens]Gene ID:225Gene
-
Gene Links for GEO Profiles (Select 113042294) (1)
Gene
-
Homo sapiens potassium intermediate/small conductance calcium-activated channel,...
Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2, mRNA (cDNA clone MGC:151065 IMAGE:40126007), complete cdsgi|111599737|gb|BC117456.1|Nucleotide
-
PREDICTED: Homo sapiens parvin beta (PARVB), transcript variant X1, mRNA
PREDICTED: Homo sapiens parvin beta (PARVB), transcript variant X1, mRNAgi|2217339635|ref|XM_024452235.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024