U.S. flag

An official website of the United States government

NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser) AND Acute intermittent porphyria

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 16, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001733864.2

Allele description [Variation Report for NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)]

NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)

Gene:
ABCB6:ATP binding cassette subfamily B member 6 (LAN blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)
HGVS:
  • NC_000002.12:g.219210782C>T
  • NG_032110.1:g.13209G>A
  • NM_001349828.2:c.2047G>A
  • NM_005689.4:c.2185G>AMANE SELECT
  • NP_001336757.1:p.Gly683Ser
  • NP_005680.1:p.Gly729Ser
  • LRG_824t1:c.2185G>A
  • LRG_824:g.13209G>A
  • LRG_824p1:p.Gly729Ser
  • NC_000002.11:g.220075504C>T
Protein change:
G683S
Links:
dbSNP: rs541845688
NCBI 1000 Genomes Browser:
rs541845688
Molecular consequence:
  • NM_001349828.2:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005689.4:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute intermittent porphyria (AIP)
Synonyms:
Porphobilinogen deaminase deficiency; Uroporphyrinogen synthase deficiency; UPS deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008294; MedGen: C0162565; Orphanet: 79276; OMIM: 176000

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
SCV001985011Phillips Lab, Hematology, University of Utah
criteria provided, single submitter

(Submitter’s Publication)		Benign
(Aug 16, 2021) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European (non-Finnish)unknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Phillips Lab, Hematology, University of Utah, SCV001985011.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European (non-Finnish)not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024