ClinVar

NM_144997.7(FLCN):c.1708C>T (p.Arg570Cys)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17213687 (on Assembly GRCh38)
• Chr17: 17117001 (on Assembly GRCh37)

Preferred name:

NM_144997.7(FLCN):c.1708C>T (p.Arg570Cys)

HGVS:

• NC_000017.11:g.17213687G>A
• NG_008001.2:g.28502C>T
• NM_001353229.2:c.1762C>T
• NM_001353230.2:c.1708C>T
• NM_001353231.2:c.1708C>T
• NM_144997.7:c.1708C>TMANE SELECT
• NP_001340158.1:p.Arg588Cys
• NP_001340159.1:p.Arg570Cys
• NP_001340160.1:p.Arg570Cys
• NP_659434.2:p.Arg570Cys
• LRG_325t1:c.1708C>T
• LRG_325:g.28502C>T
• NC_000017.10:g.17117001G>A
• NM_144997.5:c.1708C>T

This HGVS expression did not pass validation

Protein change:

R570C

Links:

dbSNP: rs752161850

NCBI 1000 Genomes Browser:

rs752161850

Molecular consequence:

• NM_001353229.2:c.1762C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353230.2:c.1708C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353231.2:c.1708C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_144997.7:c.1708C>T - missense variant - [Sequence Ontology: SO:0001583]