NM_000130.5(F5):c.2301A>G (p.Ser767=) AND not specified
- Germline classification:
- Benign (3 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000249734.9
Allele description [Variation Report for NM_000130.5(F5):c.2301A>G (p.Ser767=)]
NM_000130.5(F5):c.2301A>G (p.Ser767=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
porphobilinogen deaminase isoform 1 [Mus musculus]
porphobilinogen deaminase isoform 1 [Mus musculus]gi|159110431|ref|NP_038579.2|Protein
-
Mms21p [Saccharomyces cerevisiae YJM689]
Mms21p [Saccharomyces cerevisiae YJM689]gi|768821794|gnl|McCuskerlabDuke|H7 M689E00060|gb|AJV38356.1|Protein
-
Klebsiella michiganensis KCTC 1686, complete sequence
Klebsiella michiganensis KCTC 1686, complete sequencegi|375256816|ref|NC_016612.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024