ClinVar

NM_001177701.3(IFT27):c.63G>T (p.Leu21=)

Gene:

IFT27:intraflagellar transport 27 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 36767834 (on Assembly GRCh38)
• Chr22: 37163878 (on Assembly GRCh37)

Preferred name:

NM_001177701.3(IFT27):c.63G>T (p.Leu21=)

HGVS:

• NC_000022.11:g.36767834C>A
• NG_034205.1:g.13300G>T
• NM_001177701.3:c.63G>TMANE SELECT
• NM_001363003.2:c.63G>T
• NM_006860.5:c.60G>T
• NP_001171172.1:p.Leu21=
• NP_001349932.1:p.Leu21=
• NP_006851.1:p.Leu20=
• NC_000022.10:g.37163878C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2145921056

NCBI 1000 Genomes Browser:

rs2145921056

Molecular consequence:

• NM_001177701.3:c.63G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363003.2:c.63G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006860.5:c.60G>T - synonymous variant - [Sequence Ontology: SO:0001819]