NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001048419.8
Allele description [Variation Report for NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro)]
NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens inversin (INVS), RefSeqGene on chromosome 9
Homo sapiens inversin (INVS), RefSeqGene on chromosome 9gi|195232770|ref|NG_008316.1|Nucleotide
-
Hyperkalemic metabolic acidosis
Hyperkalemic metabolic acidosisMedGen
-
Taxonomy Links for Nucleotide (Select 21732805) (1)
Taxonomy
-
Taxonomy Links for Nucleotide (Select 5340874) (1)
Taxonomy
-
OMIM Links for Nucleotide (Select 1653962603) (2)
OMIM
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024