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NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del) AND p phenotype

Germline classification:
Affects (1 submission)
Last evaluated:
Jan 1, 2002
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:
RCV000002815.11

Allele description [Variation Report for NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del)]

NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del)

Gene:
A4GALT:alpha 1,4-galactosyltransferase (P1PK blood group) [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del)
Other names:
A4GALT, 3-BP DEL, 237CTT
HGVS:
  • NC_000022.11:g.42693711AGA[1]
  • NG_007495.2:g.32588TTC[1]
  • NM_001318038.3:c.238TTC[1]
  • NM_017436.7:c.238TTC[1]MANE SELECT
  • NP_001304967.1:p.Phe81del
  • NP_059132.1:p.Phe81del
  • LRG_795t1:c.238TTC[1]
  • LRG_795:g.32588TTC[1]
  • LRG_795p1:p.Phe81del
  • NC_000022.10:g.43089717AGA[1]
  • NG_007495.1:g.32159_32161del
  • NM_017436.4:c.240_242del
Protein change:
F81del
Links:
OMIM: 607922.0005; dbSNP: rs387906279
NCBI 1000 Genomes Browser:
rs387906279
Molecular consequence:
  • NM_001318038.3:c.238TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_017436.7:c.238TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
p phenotype
Synonyms:
P1PK BLOOD GROUP SYSTEM, p PHENOTYPE
Identifiers:
MedGen: C0599990

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022973OMIM
no assertion criteria provided
Affects
(Jan 1, 2002) 		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

Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype.

Koda Y, Soejima M, Sato H, Maeda Y, Kimura H.

Transfusion. 2002 Jan;42(1):48-51.

PubMed [citation]
PMID:
11896312

Details of each submission

From OMIM, SCV000022973.1

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

Description

In a Japanese individual with the rare p phenotype of the P1PK blood group system (see 111400), Koda et al. (2002) identified a homozygous 3-bp deletion in the A4GALT gene (237delCTT), resulting in the deletion of a phe residue at codon 80. The mutation was not detected in 140 Japanese individuals.

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

Last Updated: Nov 10, 2024