ClinVar

NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)

Gene:

COLEC11:collectin subfamily member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.3

Genomic location:

• Chr2: 3613371 (on Assembly GRCh38)
• Chr2: 3660961 (on Assembly GRCh37)

Preferred name:

NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)

HGVS:

• NC_000002.12:g.3613371C>T
• NG_031954.1:g.23540C>T
• NM_001255982.2:c.130+8901C>T
• NM_001255983.2:c.191C>T
• NM_001255984.2:c.130+8901C>T
• NM_001255985.1:c.233C>T
• NM_001255986.1:c.113C>T
• NM_001255987.1:c.52+7128C>T
• NM_001255988.1:c.113C>T
• NM_001255989.1:c.52+7128C>T
• NM_024027.5:c.191C>TMANE SELECT
• NM_199235.3:c.103C>T
• NP_001242912.1:p.Thr64Met
• NP_001242914.1:p.Thr78Met
• NP_001242915.1:p.Thr38Met
• NP_001242917.1:p.Thr38Met
• NP_076932.1:p.Thr64Met
• NP_954705.1:p.Arg35Trp
• LRG_350t1:c.191C>T
• LRG_350:g.23540C>T
• NC_000002.11:g.3660961C>T
• NM_024027.4:c.191C>T
• NR_045659.2:n.274C>T

This HGVS expression did not pass validation

Protein change:

R35W

Links:

dbSNP: rs142369741

NCBI 1000 Genomes Browser:

rs142369741

Molecular consequence:

• NM_001255982.2:c.130+8901C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001255984.2:c.130+8901C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001255987.1:c.52+7128C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001255989.1:c.52+7128C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001255983.2:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001255985.1:c.233C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001255986.1:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001255988.1:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024027.5:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199235.3:c.103C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045659.2:n.274C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]