ClinVar

NM_017777.4(MKS1):c.795C>T (p.Ile265=)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58213045 (on Assembly GRCh38)
• Chr17: 56290406 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.795C>T (p.Ile265=)

HGVS:

• NC_000017.11:g.58213045G>A
• NG_013032.1:g.11561C>T
• NM_001321268.2:c.186C>T
• NM_001321269.2:c.795C>T
• NM_001330397.2:c.795C>T
• NM_017777.4:c.795C>TMANE SELECT
• NP_001308197.1:p.Ile62=
• NP_001308198.1:p.Ile265=
• NP_001317326.1:p.Ile265=
• NP_060247.2:p.Ile265=
• LRG_687t2:c.765C>T
• LRG_687:g.11561C>T
• LRG_687p2:p.Ile255=
• NC_000017.10:g.56290406G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs750597104

NCBI 1000 Genomes Browser:

rs750597104

Molecular consequence:

• NM_001321268.2:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321269.2:c.795C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330397.2:c.795C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017777.4:c.795C>T - synonymous variant - [Sequence Ontology: SO:0001819]