ClinVar

NM_144997.7(FLCN):c.939G>A (p.Leu313=)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17219142 (on Assembly GRCh38)
• Chr17: 17122456 (on Assembly GRCh37)

Preferred name:

NM_144997.7(FLCN):c.939G>A (p.Leu313=)

HGVS:

• NC_000017.11:g.17219142C>T
• NG_008001.2:g.23047G>A
• NM_001353229.2:c.993G>A
• NM_001353230.2:c.939G>A
• NM_001353231.2:c.939G>A
• NM_144997.7:c.939G>AMANE SELECT
• NP_001340158.1:p.Leu331=
• NP_001340159.1:p.Leu313=
• NP_001340160.1:p.Leu313=
• NP_659434.2:p.Leu313=
• LRG_325t1:c.939G>A
• LRG_325:g.23047G>A
• NC_000017.10:g.17122456C>T
• NM_144997.5:c.939G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs558365108

NCBI 1000 Genomes Browser:

rs558365108

Molecular consequence:

• NM_001353229.2:c.993G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353230.2:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353231.2:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144997.7:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]