NM_001037335.2(HELZ2):c.3580G>A (p.Val1194Met) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004403998.1
Allele description [Variation Report for NM_001037335.2(HELZ2):c.3580G>A (p.Val1194Met)]
NM_001037335.2(HELZ2):c.3580G>A (p.Val1194Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens glutamate ionotropic receptor kainate type subunit 5 (GR...
PREDICTED: Homo sapiens glutamate ionotropic receptor kainate type subunit 5 (GRIK5), transcript variant X8, mRNAgi|2217320864|ref|XM_011526871.3|Nucleotide
-
PREDICTED: Mus musculus Na+/K+ transporting ATPase interacting 2 (Nkain2), trans...
PREDICTED: Mus musculus Na+/K+ transporting ATPase interacting 2 (Nkain2), transcript variant X2, misc_RNAgi|1907076037|ref|XR_004936218.1|Nucleotide
-
PREDICTED: Mus musculus Na+/K+ transporting ATPase interacting 2 (Nkain2), trans...
PREDICTED: Mus musculus Na+/K+ transporting ATPase interacting 2 (Nkain2), transcript variant X3, mRNAgi|1907076038|ref|XM_036155888.1|Nucleotide
-
Caenorhabditis elegans BTB domain-containing protein (Y48G1A.1), mRNA
Caenorhabditis elegans BTB domain-containing protein (Y48G1A.1), mRNAgi|1734315857|ref|NM_058321.5|Nucleotide
-
multiple PDZ domain protein isoform X8 [Homo sapiens]
multiple PDZ domain protein isoform X8 [Homo sapiens]gi|2217382041|ref|XP_047279992.1|Protein
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Last Updated: May 7, 2024