ClinVar

NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 117611760 (on Assembly GRCh38)
• Chr7: 117251814 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)

HGVS:

• NC_000007.14:g.117611760T>C
• NG_016465.4:g.150977T>C
• NG_056128.2:g.4814T>C
• NM_000492.4:c.3319T>CMANE SELECT
• NP_000483.3:p.Phe1107Leu
• LRG_663t1:c.3319T>C
• LRG_663:g.150977T>C
• NC_000007.13:g.117251814T>C
• NG_056128.1:g.4814T>C
• NM_000492.3:c.3319T>C

This HGVS expression did not pass validation

Protein change:

F1107L

Links:

dbSNP: rs1584822486

NCBI 1000 Genomes Browser:

rs1584822486

Molecular consequence:

• NM_000492.4:c.3319T>C - missense variant - [Sequence Ontology: SO:0001583]