NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) AND Pulmonary hypertension, primary, 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:
- RCV000488676.2
Allele description [Variation Report for NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser)]
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser)
Condition(s)
-
Homo sapiens isolate AUS67 mitochondrion, complete genome
Homo sapiens isolate AUS67 mitochondrion, complete genomegi|1172960436|gb|KY595549.1|Nucleotide
-
Homo sapiens isolate AUS47 mitochondrion, complete genome
Homo sapiens isolate AUS47 mitochondrion, complete genomegi|1172960450|gb|KY595550.1|Nucleotide
-
Homo sapiens isolate AUS70 mitochondrion, complete genome
Homo sapiens isolate AUS70 mitochondrion, complete genomegi|1172961206|gb|KY595604.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024