U.S. flag

An official website of the United States government

NM_198055.2(MZF1):c.1678C>T (p.Arg560Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004148766.1

Allele description [Variation Report for NM_198055.2(MZF1):c.1678C>T (p.Arg560Trp)]

NM_198055.2(MZF1):c.1678C>T (p.Arg560Trp)

Genes:
MZF1-AS1:MZF1 antisense RNA 1 [Gene - HGNC]
MZF1:myeloid zinc finger 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.43
Genomic location:
Preferred name:
NM_198055.2(MZF1):c.1678C>T (p.Arg560Trp)
HGVS:
  • NC_000019.10:g.58562599G>A
  • NM_001267033.2:c.*561C>T
  • NM_003422.3:c.1678C>T
  • NM_198055.2:c.1678C>TMANE SELECT
  • NP_003413.2:p.Arg560Trp
  • NP_932172.1:p.Arg560Trp
  • NC_000019.9:g.59073966G>A
  • NM_198055.1:c.1678C>T
...more
Protein change:
R560W
Molecular consequence:
  • NM_001267033.2:c.*561C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003422.3:c.1678C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198055.2:c.1678C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV003642792Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jul 26, 2022)
germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024

External link. Please review our privacy policy.