ClinVar

NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)

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: 117610594 (on Assembly GRCh38)
• Chr7: 117250648 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)

HGVS:

• NC_000007.14:g.117610594G>C
• NG_016465.4:g.149811G>C
• NG_056128.2:g.3648G>C
• NM_000492.4:c.3064G>CMANE SELECT
• NP_000483.3:p.Val1022Leu
• LRG_663t1:c.3064G>C
• LRG_663:g.149811G>C
• NC_000007.13:g.117250648G>C
• NC_000007.13:g.117250648G>C
• NG_056128.1:g.3648G>C
• NM_000492.3:c.3064G>C

This HGVS expression did not pass validation

Protein change:

V1022L

Links:

dbSNP: rs144441835

NCBI 1000 Genomes Browser:

rs144441835

Molecular consequence:

• NM_000492.4:c.3064G>C - missense variant - [Sequence Ontology: SO:0001583]