ClinVar

NM_144997.7(FLCN):c.42C>T (p.His14=)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17228096 (on Assembly GRCh38)
• Chr17: 17131410 (on Assembly GRCh37)

Preferred name:

NM_144997.7(FLCN):c.42C>T (p.His14=)

HGVS:

• NC_000017.11:g.17228096G>A
• NG_008001.2:g.14093C>T
• NM_001353229.2:c.42C>T
• NM_001353230.2:c.42C>T
• NM_001353231.2:c.42C>T
• NM_144606.7:c.42C>T
• NM_144997.7:c.42C>TMANE SELECT
• NP_001340158.1:p.His14=
• NP_001340159.1:p.His14=
• NP_001340160.1:p.His14=
• NP_653207.1:p.His14=
• NP_659434.2:p.His14=
• LRG_325t1:c.42C>T
• LRG_325:g.14093C>T
• NC_000017.10:g.17131410G>A
• NM_144997.5:c.42C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs766288960

NCBI 1000 Genomes Browser:

rs766288960

Molecular consequence:

• NM_001353229.2:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353230.2:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353231.2:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144606.7:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144997.7:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1