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chr17:33428027 A>T

Annotations

GeneRAD51D
TranscriptNM_002878.3
cDNAc.932T>A
Proteinp.I311N
Functionmissense
Localizationexon
hg19chr17:33428027 A>T

Synonyms

TranscriptcDNAProtein
NM_133629.2c.596T>Ap.I199N
NM_001142571.1c.992T>Ap.I331N
NR_037711.1n.1069T>A
NR_037712.1n.934T>A

Frequency in gnomAD

GenomeExome
MAX0.00620.0042
AFR00
AMR00
ASJ00
EAS0.00620.0042
FIN0.00030.00004484
NFE0.00010.0002
SAS0.0003

ClinVar

IDPhenotypeEffect
RCV000235205.3not specifiedVUS
RCV000656967.1not providedVUS
RCV000233793.4Breast-ovarian cancer, familial 4Conflicting interpretations of pathogenicity
RCV000115822.8Hereditary cancer-predisposing syndromeVUS

HGMD

IDPhenotypeEffect
CM128415Ovarian cancerDM?