U.S. flag

An official website of the United States government

NM_015865.7(SLC14A1):c.342-1G>A AND Jk-null variant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 22, 1998
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000019291.2

Allele description [Variation Report for NM_015865.7(SLC14A1):c.342-1G>A]

NM_015865.7(SLC14A1):c.342-1G>A

Gene:
SLC14A1:solute carrier family 14 member 1 (Kidd blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.3
Genomic location:
Preferred name:
NM_015865.7(SLC14A1):c.342-1G>A
HGVS:
  • NC_000018.10:g.45734273G>A
  • NG_011775.4:g.52249G>A
  • NM_001128588.4:c.510-1G>A
  • NM_001146036.3:c.342-1G>A
  • NM_001146037.1:c.510-1G>A
  • NM_001308278.2:c.27-1G>A
  • NM_001308279.2:c.-55-1G>A
  • NM_015865.6:c.342-1G>A
  • NM_015865.7:c.342-1G>AMANE SELECT
  • LRG_802t1:c.342-1G>A
  • LRG_802:g.52249G>A
  • NC_000018.9:g.43314238G>A
Note:
NCBI staff provided an HGVS expression for 613868.0002 from the sequence reported in Figure 4 of the paper by Lucien et al., 1998 (PubMed 9582331).
Nucleotide change:
IVS5AS, G-A, -1
Links:
OMIM: 613868.0002; dbSNP: rs78937798
NCBI 1000 Genomes Browser:
rs78937798
Molecular consequence:
  • NM_001128588.4:c.510-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001146036.3:c.342-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001146037.1:c.510-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001308278.2:c.27-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001308279.2:c.-55-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_015865.7:c.342-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Jk-null variant
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039580OMIM
no assertion criteria provided
Pathogenic
(May 22, 1998) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characterization of the gene encoding the human Kidd blood group/urea transporter protein. Evidence for splice site mutations in Jknull individuals.

Lucien N, Sidoux-Walter F, Olivès B, Moulds J, Le Pennec PY, Cartron JP, Bailly P.

J Biol Chem. 1998 May 22;273(21):12973-80.

PubMed [citation]
PMID:
9582331

Details of each submission

From OMIM, SCV000039580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Lucien et al. (1998) studied 2 unrelated individuals, 1 European and 1 Chinese, who lacked JK antigens (111000) and protein expression on red cells. By genomic DNA analysis they determined that the European subject did not express exon 7 of the urea transporter gene and the Chinese subject did not express exon 6 due to splice site mutations. When expressed in Xenopus oocytes, wildtype, but not mutant, JK proteins mediated urea transport. Although the JK-null individuals have a urea transport deficiency, they do not suffer any clinical syndrome, suggesting the existence of compensatory mechanisms.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024