ClinVar

NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)

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: 117611726 (on Assembly GRCh38)
• Chr7: 117251780 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)

Other names:

3417A/T

HGVS:

• NC_000007.14:g.117611726A>T
• NG_016465.4:g.150943A>T
• NG_056128.2:g.4780A>T
• NM_000492.4:c.3285A>TMANE SELECT
• NP_000483.3:p.Thr1095=
• NP_000483.3:p.Thr1095=
• LRG_663t1:c.3285A>T
• LRG_663:g.150943A>T
• LRG_663p1:p.Thr1095=
• NC_000007.13:g.117251780A>T
• NG_056128.1:g.4780A>T
• NM_000492.3:c.3285A>T
• p.Thr1095Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs1800118

NCBI 1000 Genomes Browser:

rs1800118

Molecular consequence:

• NM_000492.4:c.3285A>T - synonymous variant - [Sequence Ontology: SO:0001819]