NM_000190.4(HMBS):c.344+2T>C AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003062463.3
Allele description [Variation Report for NM_000190.4(HMBS):c.344+2T>C]
NM_000190.4(HMBS):c.344+2T>C
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
1q42.1 (0)
OMIM
-
Homo sapiens cDNA FLJ32323 fis, clone PROST2003674
Homo sapiens cDNA FLJ32323 fis, clone PROST2003674gi|16552406|dbj|AK056885.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024