ClinVar

NM_014846.4(WASHC5):c.2771-7T>C

Genes:

WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
WASHC5-AS1:WASHC5 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.13

Genomic location:

• Chr8: 125043911 (on Assembly GRCh38)
• Chr8: 126056153 (on Assembly GRCh37)

Preferred name:

NM_014846.4(WASHC5):c.2771-7T>C

HGVS:

• NC_000008.11:g.125043911A>G
• NG_012636.1:g.52909T>C
• NM_001330609.2:c.2327-7T>C
• NM_014846.4:c.2771-7T>CMANE SELECT
• NC_000008.10:g.126056153A>G
• NM_014846.3:c.2771-7T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs142685897

NCBI 1000 Genomes Browser:

rs142685897

Molecular consequence:

• NM_001330609.2:c.2327-7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_014846.4:c.2771-7T>C - intron variant - [Sequence Ontology: SO:0001627]