U.S. flag

An official website of the United States government

NM_000137.4(FAH):c.318A>G (p.Ala106=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 2018
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:
RCV000731768.4

Allele description [Variation Report for NM_000137.4(FAH):c.318A>G (p.Ala106=)]

NM_000137.4(FAH):c.318A>G (p.Ala106=)

Genes:
LOC112272621:Sharpr-MPRA regulatory region 12283 [Gene]
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.4(FAH):c.318A>G (p.Ala106=)
HGVS:
  • NC_000015.10:g.80160413A>G
  • NG_012833.1:g.12415A>G
  • NM_000137.4:c.318A>GMANE SELECT
  • NM_001374377.1:c.318A>G
  • NM_001374380.1:c.318A>G
  • NP_000128.1:p.Ala106=
  • NP_001361306.1:p.Ala106=
  • NP_001361309.1:p.Ala106=
  • NC_000015.9:g.80452755A>G
Links:
dbSNP: rs141827305
NCBI 1000 Genomes Browser:
rs141827305
Molecular consequence:
  • NM_000137.4:c.318A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374377.1:c.318A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374380.1:c.318A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000859618Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Feb 8, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000859618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024