ClinVar

NM_144997.7(FLCN):c.1063-10T>G

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17217192 (on Assembly GRCh38)
• Chr17: 17120506 (on Assembly GRCh37)

Preferred name:

NM_144997.7(FLCN):c.1063-10T>G

HGVS:

• NC_000017.11:g.17217192A>C
• NG_008001.2:g.24997T>G
• NM_001353229.2:c.1117-10T>G
• NM_001353230.2:c.1063-10T>G
• NM_001353231.2:c.1063-10T>G
• NM_144997.7:c.1063-10T>GMANE SELECT
• LRG_325t1:c.1063-10T>G
• LRG_325:g.24997T>G
• NC_000017.10:g.17120506A>C
• NM_144997.5:c.1063-10T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs2046952880

NCBI 1000 Genomes Browser:

rs2046952880

Molecular consequence:

• NM_001353229.2:c.1117-10T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353230.2:c.1063-10T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353231.2:c.1063-10T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_144997.7:c.1063-10T>G - intron variant - [Sequence Ontology: SO:0001627]