NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) AND Phosphate transport defect
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007337.11
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)]
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
Condition(s)
-
Immunodeficiency 61
Immunodeficiency 61MedGen
-
C1845903[conceptid] (1)
MedGen
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dynamin-1-like protein isoform t [Mus musculus]
dynamin-1-like protein isoform t [Mus musculus]gi|2228568556|ref|NP_001392193.1|Protein
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Mus musculus dynamin 1-like (Dnm1l), transcript variant 17, mRNA
Mus musculus dynamin 1-like (Dnm1l), transcript variant 17, mRNAgi|2228568467|ref|NM_001405259.1|Nucleotide
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Hipposideros ater voucher KU 164242 cytochrome b (CYTB) gene, partial cds; mitoc...
Hipposideros ater voucher KU 164242 cytochrome b (CYTB) gene, partial cds; mitochondrialgi|1840209201|gb|MT149731.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024