NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002476476.1
Allele description [Variation Report for NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro)]
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro)
Condition(s)
- Name:
- BLOOD GROUP--SWANN SYSTEM (SW)
- Synonyms:
- SWANN BLOOD GROUP
- Identifiers:
- MedGen: C1832169; OMIM: 601550
- Name:
- BLOOD GROUP--WALDNER TYPE (WD)
- Synonyms:
- WALDNER BLOOD GROUP ANTIGEN
- Identifiers:
- MedGen: C1862191; OMIM: 112010
- Name:
- BLOOD GROUP--FROESE (FR)
- Synonyms:
- FROESE BLOOD GROUP ANTIGEN
- Identifiers:
- MedGen: C1832168; OMIM: 601551
- Name:
- Southeast Asian ovalocytosis
- Synonyms:
- HE, STOMATOCYTIC; Stomatocytic elliptocytosis, hereditary; Ovalocytosis, Malaysian-Melanesian-Filipino type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008165; MedGen: C1862322; Orphanet: 98868; OMIM: 166900
- Name:
- Hereditary spherocytosis type 4
- Synonyms:
- Spherocytosis type 4; SLC4A1-Related Spherocytosis
- Identifiers:
- MONDO: MONDO:0012981; MedGen: C2675212; Orphanet: 822; OMIM: 612653
- Name:
- BLOOD GROUP--DIEGO SYSTEM (DI)
- Synonyms:
- BLOOD GROUP, DIEGO SYSTEM
- Identifiers:
- MedGen: C1292286; OMIM: 110500
- Name:
- Cryohydrocytosis
- Synonyms:
- Pseudohyperkalemia Cardiff; Stomatocytosis, cold-sensitive; CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008494; MedGen: C1861453; Orphanet: 398088; OMIM: 185020
- Name:
- Autosomal dominant distal renal tubular acidosis (DRTA1)
- Synonyms:
- RTA, classic type; RTA, gradient type; Renal tubular acidosis 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008368; MedGen: CN280572; OMIM: 179800
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Last Updated: Sep 29, 2024