ClinVar

NM_001102564.3(IFT43):c.9T>C (p.Asp3=)

Gene:

IFT43:intraflagellar transport 43 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 75985795 (on Assembly GRCh38)
• Chr14: 76452138 (on Assembly GRCh37)

Preferred name:

NM_001102564.3(IFT43):c.9T>C (p.Asp3=)

HGVS:

• NC_000014.9:g.75985795T>C
• NG_011715.1:g.955A>G
• NG_031957.1:g.5043T>C
• NM_001102564.3:c.9T>CMANE SELECT
• NM_001255995.3:c.9T>C
• NM_052873.3:c.9T>C
• NP_001096034.1:p.Asp3=
• NP_001242924.1:p.Asp3=
• NP_443105.2:p.Asp3=
• LRG_399:g.955A>G
• NC_000014.8:g.76452138T>C
• NR_045664.2:n.33T>C
• NR_045665.2:n.33T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs769058696

NCBI 1000 Genomes Browser:

rs769058696

Molecular consequence:

• NR_045664.2:n.33T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045665.2:n.33T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001102564.3:c.9T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001255995.3:c.9T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052873.3:c.9T>C - synonymous variant - [Sequence Ontology: SO:0001819]