ClinVar

NM_017777.4(MKS1):c.791C>T (p.Thr264Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58213049 (on Assembly GRCh38)
• Chr17: 56290410 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.791C>T (p.Thr264Met)

HGVS:

• NC_000017.11:g.58213049G>A
• NG_013032.1:g.11557C>T
• NM_001321268.2:c.182C>T
• NM_001321269.2:c.791C>T
• NM_001330397.2:c.791C>T
• NM_017777.4:c.791C>TMANE SELECT
• NP_001308197.1:p.Thr61Met
• NP_001308198.1:p.Thr264Met
• NP_001317326.1:p.Thr264Met
• NP_060247.2:p.Thr264Met
• LRG_687t2:c.761C>T
• LRG_687:g.11557C>T
• LRG_687p2:p.Thr254Met
• NC_000017.10:g.56290410G>A
• NM_017777.3:c.791C>T

This HGVS expression did not pass validation

Protein change:

T264M

Links:

dbSNP: rs561482424

NCBI 1000 Genomes Browser:

rs561482424

Molecular consequence:

• NM_001321268.2:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321269.2:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330397.2:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017777.4:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1