NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) AND Hereditary angioedema type 1
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000768693.1
Allele description [Variation Report for NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter)]
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter)
Condition(s)
-
hypothetical protein GUITHDRAFT_160284 [Guillardia theta CCMP2712]
hypothetical protein GUITHDRAFT_160284 [Guillardia theta CCMP2712]gi|551635248|ref|XP_005820459.1||gn _WGS:AEIE|GUITHDRAFT_160284Protein
-
Rattus norvegicus small integral membrane protein 17 (Smim17), mRNA
Rattus norvegicus small integral membrane protein 17 (Smim17), mRNAgi|157820420|ref|NM_001109138.1|Nucleotide
-
ATP synthase F0 subunit 6 (mitochondrion) [Indotestudo elongata]
ATP synthase F0 subunit 6 (mitochondrion) [Indotestudo elongata]gi|84488642|gnl|NCBI_MITO|ATP6_1911 |YP_448834.1|Protein
-
Serine dehydratase [Mus musculus]
Serine dehydratase [Mus musculus]gi|18314530|gb|AAH21950.1|Protein
-
1_media_rep2
1_media_rep2GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024