ClinVar

NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20189475 (on Assembly GRCh38)
• Chr13: 20763614 (on Assembly GRCh37)

Preferred name:

NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)

Other names:

NM_004004.5(GJB2):c.107T>C

HGVS:

• NC_000013.11:g.20189475A>G
• NG_008358.1:g.8501T>C
• NM_004004.6:c.107T>CMANE SELECT
• NP_003995.2:p.Leu36Pro
• LRG_1350t1:c.107T>C
• LRG_1350:g.8501T>C
• LRG_1350p1:p.Leu36Pro
• NC_000013.10:g.20763614A>G
• NC_000013.10:g.20763614A>G
• NM_004004.5:c.107T>C
• p.LEU36PRO

This HGVS expression did not pass validation

Protein change:

L36P

Links:

dbSNP: rs587783644

NCBI 1000 Genomes Browser:

rs587783644

Molecular consequence:

• NM_004004.6:c.107T>C - missense variant - [Sequence Ontology: SO:0001583]