ClinVar

NM_144997.7(FLCN):c.1149C>T (p.Leu383=)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17217096 (on Assembly GRCh38)
• Chr17: 17120410 (on Assembly GRCh37)

Preferred name:

NM_144997.7(FLCN):c.1149C>T (p.Leu383=)

HGVS:

• NC_000017.11:g.17217096G>A
• NG_008001.2:g.25093C>T
• NM_001353229.2:c.1203C>T
• NM_001353230.2:c.1149C>T
• NM_001353231.2:c.1149C>T
• NM_144997.7:c.1149C>TMANE SELECT
• NP_001340158.1:p.Leu401=
• NP_001340159.1:p.Leu383=
• NP_001340160.1:p.Leu383=
• NP_659434.2:p.Leu383=
• LRG_325t1:c.1149C>T
• LRG_325:g.25093C>T
• LRG_325p1:p.(=)
• NC_000017.10:g.17120410G>A
• NM_144997.5:c.1149C>T
• NP_659434.2:p.(=)
• p.L383L

This HGVS expression did not pass validation

Links:

dbSNP: rs150752548

NCBI 1000 Genomes Browser:

rs150752548

Molecular consequence:

• NM_001353229.2:c.1203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353230.2:c.1149C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353231.2:c.1149C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144997.7:c.1149C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2