ClinVar

NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)

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: 117610567 (on Assembly GRCh38)
• Chr7: 117250621 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)

HGVS:

• NC_000007.14:g.117610567C>T
• NG_016465.4:g.149784C>T
• NG_056128.2:g.3621C>T
• NM_000492.4:c.3037C>TMANE SELECT
• NP_000483.3:p.Pro1013Ser
• LRG_663t1:c.3037C>T
• LRG_663:g.149784C>T
• NC_000007.13:g.117250621C>T
• NG_056128.1:g.3621C>T
• NM_000492.3:c.3037C>T

This HGVS expression did not pass validation

Protein change:

P1013S

Links:

dbSNP: rs978796108

NCBI 1000 Genomes Browser:

rs978796108

Molecular consequence:

• NM_000492.4:c.3037C>T - missense variant - [Sequence Ontology: SO:0001583]