ClinVar

NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile)

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: 117611756 (on Assembly GRCh38)
• Chr7: 117251810 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile)

HGVS:

• NC_000007.14:g.117611756G>T
• NG_016465.4:g.150973G>T
• NG_056128.2:g.4810G>T
• NM_000492.4:c.3315G>TMANE SELECT
• NP_000483.3:p.Met1105Ile
• LRG_663t1:c.3315G>T
• LRG_663:g.150973G>T
• NC_000007.13:g.117251810G>T
• NG_056128.1:g.4810G>T
• NM_000492.3:c.3315G>T

This HGVS expression did not pass validation

Protein change:

M1105I

Links:

dbSNP: rs1792392768

NCBI 1000 Genomes Browser:

rs1792392768

Molecular consequence:

• NM_000492.4:c.3315G>T - missense variant - [Sequence Ontology: SO:0001583]