Gene Symbol:
SLC4A1
HGNC:11027
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q21.31
Filters:

Strong classifications

renal tubular acidosis, distal, 4, with hemolytic anemia
Submitted as: OMIM:611590
AR
07/09/2021
Evaluated
11/30/2023
Submitted
autosomal dominant distal renal tubular acidosis
Submitted as: OMIM:179800
AD
07/22/2015
Evaluated
09/11/2023
Submitted
renal tubular acidosis, distal, 4, with hemolytic anemia
Submitted as: OMIM:611590
AR
07/22/2015
Evaluated
09/11/2023
Submitted
southeast Asian ovalocytosis
Submitted as: OMIM:166900
AD
08/09/2019
Evaluated
11/30/2023
Submitted
hereditary spherocytosis type 4
Submitted as: OMIM:612653
AD
02/06/2023
Evaluated
11/30/2023
Submitted
autosomal dominant distal renal tubular acidosis
Submitted as: OMIM:179800
AD
09/17/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

hereditary spherocytosis
Submitted as: Orphanet:822
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dehydrated hereditary stomatocytosis
Submitted as: Orphanet:3202
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant distal renal tubular acidosis
Submitted as: Orphanet:93608
AD
09/14/2021
Evaluated
09/14/2021
Submitted
renal tubular acidosis, distal, 4, with hemolytic anemia
Submitted as: Orphanet:93610
AD
09/14/2021
Evaluated
09/14/2021
Submitted
southeast Asian ovalocytosis
Submitted as: Orphanet:98868
AD
09/14/2021
Evaluated
09/14/2021
Submitted
cryohydrocytosis
Submitted as: Orphanet:398088
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

cryohydrocytosis
Submitted as: OMIM:185020
Unknown
08/09/2019
Evaluated
11/30/2023
Submitted

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